3iz2 - Revision history

OCA at 10:08, 21 February 2024

OCA — Wed, 21 Feb 2024 10:08:23 GMT

←Older revision		Revision as of 10:08, 21 February 2024
Line 11:		Line 11:
	== Function ==		== Function ==
	[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.		[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
-	<div style="background-color:#fffaf0;">
-	== Publication Abstract from PubMed ==
-	Gap junction channels are unique in that they possess multiple mechanisms for channel closure, several of which involve the N terminus as a key component in gating, and possibly assembly. Here, we present electron crystallographic structures of a mutant human connexin26 (Cx26M34A) and an N-terminal deletion of this mutant (Cx26M34Adel2-7) at 6-A and 10-A resolutions, respectively. The three-dimensional map of Cx26M34A was improved by data from 60 degrees tilt images and revealed a breakdown of the hexagonal symmetry in a connexin hemichannel, particularly in the cytoplasmic domain regions at the ends of the transmembrane helices. The Cx26M34A structure contained an asymmetric density in the channel vestibule ("plug") that was decreased in the Cx26M34Adel2-7 structure, indicating that the N terminus significantly contributes to form this plug feature. Functional analysis of the Cx26M34A channels revealed that these channels are predominantly closed, with the residual electrical conductance showing normal voltage gating. N-terminal deletion mutants with and without the M34A mutation showed no electrical activity in paired Xenopus oocytes and significantly decreased dye permeability in HeLa cells. Comparing this closed structure with the recently published X-ray structure of wild-type Cx26, which is proposed to be in an open state, revealed a radial outward shift in the transmembrane helices in the closed state, presumably to accommodate the N-terminal plug occluding the pore. Because both Cx26del2-7 and Cx26M34Adel2-7 channels are closed, the N terminus appears to have a prominent role in stabilizing the open configuration.
-
-	Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction Channels.,Oshima A, Tani K, Toloue MM, Hiroaki Y, Smock A, Inukai S, Cone A, Nicholson BJ, Sosinsky GE, Fujiyoshi Y J Mol Biol. 2011 Jan 21;405(3):724-35. Epub 2010 Nov 20. PMID:21094651<ref>PMID:21094651</ref>
-
-	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	</div>
-	<div class="pdbe-citations 3iz2" style="background-color:#fffaf0;"></div>

	==See Also==		==See Also==

OCA at 14:11, 24 January 2024

OCA — Wed, 24 Jan 2024 14:11:18 GMT

←Older revision		Revision as of 14:11, 24 January 2024
Line 3:		Line 3:
	<StructureSection load='3iz2' size='340' side='right'caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>		<StructureSection load='3iz2' size='340' side='right'caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat">~~GJB2 (~~[~~https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info~~&~~srchmode=5&id=9606 HUMAN])~~</td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron crystallography, [[Resolution\|Resolution]] 10Å</td></tr>
	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [https://pdbe.org/3iz2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [https://www.ebi.ac.uk/pdbsum/3iz2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3iz2 ProSAT]</span></td></tr>		<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [https://pdbe.org/3iz2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [https://www.ebi.ac.uk/pdbsum/3iz2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3iz2 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[https://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref> <ref>PMID:14722929</ref> <ref>PMID:15666300</ref> <ref>PMID:15994881</ref> <ref>PMID:9328482</ref> <ref>PMID:9336442</ref> <ref>PMID:9529365</ref> <ref>PMID:9471561</ref> <ref>PMID:10830906</ref> <ref>PMID:11313763</ref> <ref>PMID:12239718</ref> <ref>PMID:12121355</ref> <ref>PMID:12786758</ref> <ref>PMID:15592461</ref> <ref>PMID:17660464</ref> <ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[https://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[https://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref> <ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[https://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref> <ref>PMID:9856479</ref> <ref>PMID:10757647</ref> <ref>PMID:10633135</ref> <ref>PMID:12372058</ref> <ref>PMID:15996214</ref> <ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[https://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[https://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref> <ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[https://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.	+	[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[https://omim.org/entry/220290 220290]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref> <ref>PMID:14722929</ref> <ref>PMID:15666300</ref> <ref>PMID:15994881</ref> <ref>PMID:9328482</ref> <ref>PMID:9336442</ref> <ref>PMID:9529365</ref> <ref>PMID:9471561</ref> <ref>PMID:10830906</ref> <ref>PMID:11313763</ref> <ref>PMID:12239718</ref> <ref>PMID:12121355</ref> <ref>PMID:12786758</ref> <ref>PMID:15592461</ref> <ref>PMID:17660464</ref> <ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[https://omim.org/entry/601544 601544]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[https://omim.org/entry/124500 124500]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref> <ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[https://omim.org/entry/148350 148350]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref> <ref>PMID:9856479</ref> <ref>PMID:10757647</ref> <ref>PMID:10633135</ref> <ref>PMID:12372058</ref> <ref>PMID:15996214</ref> <ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[https://omim.org/entry/148210 148210]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[https://omim.org/entry/149200 149200]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref> <ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[https://omim.org/entry/602540 602540]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.	+	[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 27:		Line 27:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Cone, A]]	+	[[Category: Cone A]]
-	[[Category: Fujiyoshi, Y]]	+	[[Category: Fujiyoshi Y]]
-	[[Category: Hiroaki, Y]]	+	[[Category: Hiroaki Y]]
-	[[Category: Inukai, S]]	+	[[Category: Inukai S]]
-	[[Category: Nicholson~~, B J~~]]	+	[[Category: Nicholson BJ]]
-	[[Category: Oshima, A]]	+	[[Category: Oshima A]]
-	[[Category: Smock, A]]	+	[[Category: Smock A]]
-	[[Category: Sosinsky~~, G E~~]]	+	[[Category: Sosinsky GE]]
-	[[Category: Tani, K]]	+	[[Category: Tani K]]
-	[[Category: Toloue~~, M M]]~~	+	[[Category: Toloue MM]]
-	~~[[Category: Gap junction channel]]~~	+
-	~~[[Category: Membrane protein~~]]	+

OCA at 03:46, 21 April 2022

OCA — Thu, 21 Apr 2022 03:46:14 GMT

←Older revision		Revision as of 03:46, 21 April 2022
Line 1:		Line 1:

	==C-alpha model fitted into the EM structure of Cx26M34Adel2-7==		==C-alpha model fitted into the EM structure of Cx26M34Adel2-7==
-	<StructureSection load='3iz2' size='340' side='right' caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>	+	<StructureSection load='3iz2' size='340' side='right'caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GJB2 ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GJB2 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [~~http~~://pdbe.org/3iz2 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/3iz2 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=3iz2 ProSAT]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [https://pdbe.org/3iz2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [https://www.ebi.ac.uk/pdbsum/3iz2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3iz2 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[~~http~~://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref> <ref>PMID:14722929</ref> <ref>PMID:15666300</ref> <ref>PMID:15994881</ref> <ref>PMID:9328482</ref> <ref>PMID:9336442</ref> <ref>PMID:9529365</ref> <ref>PMID:9471561</ref> <ref>PMID:10830906</ref> <ref>PMID:11313763</ref> <ref>PMID:12239718</ref> <ref>PMID:12121355</ref> <ref>PMID:12786758</ref> <ref>PMID:15592461</ref> <ref>PMID:17660464</ref> <ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[~~http~~://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[~~http~~://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref> <ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[~~http~~://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref> <ref>PMID:9856479</ref> <ref>PMID:10757647</ref> <ref>PMID:10633135</ref> <ref>PMID:12372058</ref> <ref>PMID:15996214</ref> <ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[~~http~~://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[~~http~~://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref> <ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[~~http~~://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.	+	[[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[https://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref> <ref>PMID:14722929</ref> <ref>PMID:15666300</ref> <ref>PMID:15994881</ref> <ref>PMID:9328482</ref> <ref>PMID:9336442</ref> <ref>PMID:9529365</ref> <ref>PMID:9471561</ref> <ref>PMID:10830906</ref> <ref>PMID:11313763</ref> <ref>PMID:12239718</ref> <ref>PMID:12121355</ref> <ref>PMID:12786758</ref> <ref>PMID:15592461</ref> <ref>PMID:17660464</ref> <ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[https://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[https://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref> <ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[https://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref> <ref>PMID:9856479</ref> <ref>PMID:10757647</ref> <ref>PMID:10633135</ref> <ref>PMID:12372058</ref> <ref>PMID:15996214</ref> <ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[https://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[https://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref> <ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[https://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.	+	[[https://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 22:		Line 22:

	==See Also==		==See Also==
-	*[[Connexin\|Connexin]]	+	*[[Connexin 3D structure\|Connexin 3D structure]]
	== References ==		== References ==
	<references/>		<references/>
Line 28:		Line 28:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Cone, A]]		[[Category: Cone, A]]
	[[Category: Fujiyoshi, Y]]		[[Category: Fujiyoshi, Y]]

OCA at 23:05, 5 August 2016

OCA — Fri, 05 Aug 2016 23:05:12 GMT

←Older revision		Revision as of 23:05, 5 August 2016
Line 1:		Line 1:
		+
	==C-alpha model fitted into the EM structure of Cx26M34Adel2-7==		==C-alpha model fitted into the EM structure of Cx26M34Adel2-7==
	<StructureSection load='3iz2' size='340' side='right' caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>		<StructureSection load='3iz2' size='340' side='right' caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/~~Homo_sapiens Homo sapiens~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GJB2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GJB2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [http://www.ebi.ac.uk/pdbsum/3iz2 PDBsum]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [http://pdbe.org/3iz2 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [http://www.ebi.ac.uk/pdbsum/3iz2 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3iz2 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 18:		Line 19:
	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
		+	<div class="pdbe-citations 3iz2" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Connexin\|Connexin]]
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Cone, A]]		[[Category: Cone, A]]
	[[Category: Fujiyoshi, Y]]		[[Category: Fujiyoshi, Y]]

OCA at 17:48, 18 December 2014

OCA — Thu, 18 Dec 2014 17:48:06 GMT

←Older revision		Revision as of 17:48, 18 December 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_3iz2\| PDB=3iz2 \| SCENE= }}~~	+	==C-alpha model fitted into the EM structure of Cx26M34Adel2-7==
-	===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===	+	<StructureSection load='3iz2' size='340' side='right' caption='[[3iz2]], [[Resolution\|resolution]] 10.00Å' scene=''>
-	~~{{ABSTRACT_PUBMED_21094651}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[3iz2]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3IZ2 FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">GJB2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[http://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref><ref>PMID:14722929</ref><ref>PMID:15666300</ref><ref>PMID:15994881</ref><ref>PMID:9328482</ref><ref>PMID:9336442</ref><ref>PMID:9529365</ref><ref>PMID:9471561</ref><ref>PMID:10830906</ref><ref>PMID:11313763</ref><ref>PMID:12239718</ref><ref>PMID:12121355</ref><ref>PMID:12786758</ref><ref>PMID:15592461</ref><ref>PMID:17660464</ref><ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[http://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[http://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref><ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[http://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref><ref>PMID:9856479</ref><ref>PMID:10757647</ref><ref>PMID:10633135</ref><ref>PMID:12372058</ref><ref>PMID:15996214</ref><ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[http://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[http://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref><ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[http://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3iz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3iz2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3iz2 RCSB], [http://www.ebi.ac.uk/pdbsum/3iz2 PDBsum]</span></td></tr>
-		+	</table>
-	==Function==	+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[http://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref> <ref>PMID:14722929</ref> <ref>PMID:15666300</ref> <ref>PMID:15994881</ref> <ref>PMID:9328482</ref> <ref>PMID:9336442</ref> <ref>PMID:9529365</ref> <ref>PMID:9471561</ref> <ref>PMID:10830906</ref> <ref>PMID:11313763</ref> <ref>PMID:12239718</ref> <ref>PMID:12121355</ref> <ref>PMID:12786758</ref> <ref>PMID:15592461</ref> <ref>PMID:17660464</ref> <ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[http://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[http://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref> <ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[http://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref> <ref>PMID:9856479</ref> <ref>PMID:10757647</ref> <ref>PMID:10633135</ref> <ref>PMID:12372058</ref> <ref>PMID:15996214</ref> <ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[http://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[http://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref> <ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[http://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.
		+	== Function ==
	[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.		[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Gap junction channels are unique in that they possess multiple mechanisms for channel closure, several of which involve the N terminus as a key component in gating, and possibly assembly. Here, we present electron crystallographic structures of a mutant human connexin26 (Cx26M34A) and an N-terminal deletion of this mutant (Cx26M34Adel2-7) at 6-A and 10-A resolutions, respectively. The three-dimensional map of Cx26M34A was improved by data from 60 degrees tilt images and revealed a breakdown of the hexagonal symmetry in a connexin hemichannel, particularly in the cytoplasmic domain regions at the ends of the transmembrane helices. The Cx26M34A structure contained an asymmetric density in the channel vestibule ("plug") that was decreased in the Cx26M34Adel2-7 structure, indicating that the N terminus significantly contributes to form this plug feature. Functional analysis of the Cx26M34A channels revealed that these channels are predominantly closed, with the residual electrical conductance showing normal voltage gating. N-terminal deletion mutants with and without the M34A mutation showed no electrical activity in paired Xenopus oocytes and significantly decreased dye permeability in HeLa cells. Comparing this closed structure with the recently published X-ray structure of wild-type Cx26, which is proposed to be in an open state, revealed a radial outward shift in the transmembrane helices in the closed state, presumably to accommodate the N-terminal plug occluding the pore. Because both Cx26del2-7 and Cx26M34Adel2-7 channels are closed, the N terminus appears to have a prominent role in stabilizing the open configuration.

-	~~==About this Structure==~~	+	Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction Channels.,Oshima A, Tani K, Toloue MM, Hiroaki Y, Smock A, Inukai S, Cone A, Nicholson BJ, Sosinsky GE, Fujiyoshi Y J Mol Biol. 2011 Jan 21;405(3):724-35. Epub 2010 Nov 20. PMID:21094651<ref>PMID:21094651</ref>
-	~~[[3iz2]] is a~~ 3 ~~chain structure with sequence from [http~~:~~//en~~.~~wikipedia~~.~~org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http~~:/~~/oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:021094651</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Cone, A.]]	+	[[Category: Cone, A]]
-	[[Category: Fujiyoshi, Y.]]	+	[[Category: Fujiyoshi, Y]]
-	[[Category: Hiroaki, Y.]]	+	[[Category: Hiroaki, Y]]
-	[[Category: Inukai, S.]]	+	[[Category: Inukai, S]]
-	[[Category: Nicholson, B J.]]	+	[[Category: Nicholson, B J]]
-	[[Category: Oshima, A.]]	+	[[Category: Oshima, A]]
-	[[Category: Smock, A.]]	+	[[Category: Smock, A]]
-	[[Category: Sosinsky, G E.]]	+	[[Category: Sosinsky, G E]]
-	[[Category: Tani, K.]]	+	[[Category: Tani, K]]
-	[[Category: Toloue, M M.]]	+	[[Category: Toloue, M M]]
	[[Category: Gap junction channel]]		[[Category: Gap junction channel]]
	[[Category: Membrane protein]]		[[Category: Membrane protein]]

OCA at 09:21, 27 March 2013

OCA — Wed, 27 Mar 2013 09:21:18 GMT

←Older revision		Revision as of 09:21, 27 March 2013
Line 1:		Line 1:
-	[[Image:3iz2.png\|left\|200px]]
-
-	<!--
-	The line below this paragraph, containing "STRUCTURE_3iz2", creates the "Structure Box" on the page.
-	You may change the PDB parameter (which sets the PDB file loaded into the applet)
-	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-	or leave the SCENE parameter empty for the default display.
-	-->
	{{STRUCTURE_3iz2\| PDB=3iz2 \| SCENE= }}		{{STRUCTURE_3iz2\| PDB=3iz2 \| SCENE= }}
-
	===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===		===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===
		+	{{ABSTRACT_PUBMED_21094651}}

		+	==Disease==
		+	[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[http://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref><ref>PMID:14722929</ref><ref>PMID:15666300</ref><ref>PMID:15994881</ref><ref>PMID:9328482</ref><ref>PMID:9336442</ref><ref>PMID:9529365</ref><ref>PMID:9471561</ref><ref>PMID:10830906</ref><ref>PMID:11313763</ref><ref>PMID:12239718</ref><ref>PMID:12121355</ref><ref>PMID:12786758</ref><ref>PMID:15592461</ref><ref>PMID:17660464</ref><ref>PMID:19384972</ref> Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[http://omim.org/entry/601544 601544]]. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[http://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref><ref>PMID:10369869</ref> Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[http://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref><ref>PMID:9856479</ref><ref>PMID:10757647</ref><ref>PMID:10633135</ref><ref>PMID:12372058</ref><ref>PMID:15996214</ref><ref>PMID:17993581</ref> Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[http://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[http://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref><ref>PMID:15952212</ref> Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[http://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.

-	~~<!--~~	+	==Function==
-	~~The line below this paragraph, {{ABSTRACT_PUBMED_21094651}}, adds the Publication Abstract to the page~~	+	[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
-	~~(as it appears on PubMed at~~ http://www.~~pubmed~~.~~gov)~~, ~~where 21094651 is~~ the ~~PubMed ID number~~.	+
-	~~-->~~	+
-	~~{{ABSTRACT_PUBMED_21094651}}~~	+

	==About this Structure==		==About this Structure==
Line 22:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:~~21094651~~</ref><references group="xtra"/>	+	<ref group="xtra">PMID:021094651</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Cone, A.]]		[[Category: Cone, A.]]
Line 34:		Line 25:
	[[Category: Tani, K.]]		[[Category: Tani, K.]]
	[[Category: Toloue, M M.]]		[[Category: Toloue, M M.]]
		+	[[Category: Gap junction channel]]
		+	[[Category: Membrane protein]]

OCA: Protected "3iz2" [edit=sysop:move=sysop]

OCA — Wed, 12 Jan 2011 05:24:22 GMT

Protected "3iz2" [edit=sysop:move=sysop]

←Older revision

Revision as of 05:24, 12 January 2011

OCA at 05:24, 12 January 2011

OCA — Wed, 12 Jan 2011 05:24:20 GMT

←Older revision		Revision as of 05:24, 12 January 2011
Line 1:		Line 1:
-	~~{{Seed}}~~	+	[[Image:3iz2.png\|left\|200px]]
-	[[Image:3iz2.~~jpg~~\|left\|200px]]	+

	<!--		<!--
Line 12:		Line 11:
	===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===		===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===

		+
		+	<!--
		+	The line below this paragraph, {{ABSTRACT_PUBMED_21094651}}, adds the Publication Abstract to the page
		+	(as it appears on PubMed at http://www.pubmed.gov), where 21094651 is the PubMed ID number.
		+	-->
		+	{{ABSTRACT_PUBMED_21094651}}

	==About this Structure==		==About this Structure==
-	~~3IZ2~~ is a 3 ~~chains~~ structure with ~~sequences~~ from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA].	+	[[3iz2]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA].
		+
		+	==Reference==
		+	<ref group="xtra">PMID:21094651</ref><references group="xtra"/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Cone, A.]]		[[Category: Cone, A.]]
Line 26:		Line 34:
	[[Category: Tani, K.]]		[[Category: Tani, K.]]
	[[Category: Toloue, M M.]]		[[Category: Toloue, M M.]]
-	[[Category: Gap junction channel]]
-	[[Category: Membrane protein]]
-
-	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Nov 3 11:08:04 2010''

OCA at 07:57, 3 November 2010

OCA — Wed, 03 Nov 2010 07:57:26 GMT

←Older revision		Revision as of 07:57, 3 November 2010
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	{{Seed}}
		+	[[Image:3iz2.jpg\|left\|200px]]

-	The ~~entry 3iz2~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	<!--
		+	The line below this paragraph, containing "STRUCTURE_3iz2", creates the "Structure Box" on the page.
		+	You may change the PDB parameter (which sets the PDB file loaded into the applet)
		+	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
		+	or leave the SCENE parameter empty for the default display.
		+	-->
		+	{{STRUCTURE_3iz2\| PDB=3iz2 \| SCENE= }}

-	~~Authors: Oshima, A., Tani, K., Toloue, M.M., Hiroaki, Y., Smock, A., Inukai, S., Cone, A., Nicholson, B.J., Sosinsky, G., Fujiyoshi, Y.~~	+	===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===

-	Description: C-alpha model fitted into the EM structure of Cx26M34Adel2-7

-	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed ~~Oct 20 06~~:16:21 2010''	+	==About this Structure==
		+	3IZ2 is a 3 chains structure with sequences from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3IZ2 OCA].
		+	[[Category: Homo sapiens]]
		+	[[Category: Cone, A.]]
		+	[[Category: Fujiyoshi, Y.]]
		+	[[Category: Hiroaki, Y.]]
		+	[[Category: Inukai, S.]]
		+	[[Category: Nicholson, B J.]]
		+	[[Category: Oshima, A.]]
		+	[[Category: Smock, A.]]
		+	[[Category: Sosinsky, G E.]]
		+	[[Category: Tani, K.]]
		+	[[Category: Toloue, M M.]]
		+	[[Category: Gap junction channel]]
		+	[[Category: Membrane protein]]
		+
		+	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Nov 3 11:08:04 2010''

OCA at 03:06, 20 October 2010

OCA — Wed, 20 Oct 2010 03:06:16 GMT

←Older revision		Revision as of 03:06, 20 October 2010
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 3iz2 is ON HOLD	+	The entry 3iz2 is ON HOLD until Paper Publication

	Authors: Oshima, A., Tani, K., Toloue, M.M., Hiroaki, Y., Smock, A., Inukai, S., Cone, A., Nicholson, B.J., Sosinsky, G., Fujiyoshi, Y.		Authors: Oshima, A., Tani, K., Toloue, M.M., Hiroaki, Y., Smock, A., Inukai, S., Cone, A., Nicholson, B.J., Sosinsky, G., Fujiyoshi, Y.
Line 7:		Line 7:
	Description: C-alpha model fitted into the EM structure of Cx26M34Adel2-7		Description: C-alpha model fitted into the EM structure of Cx26M34Adel2-7

-	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed ~~Aug 25 08~~:32:19 2010''	+	''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Oct 20 06:16:21 2010''