1lm7 - Revision history

OCA at 07:34, 14 February 2024

OCA — Wed, 14 Feb 2024 07:34:09 GMT

←Older revision		Revision as of 07:34, 14 February 2024
Line 3:		Line 3:
	<StructureSection load='1lm7' size='340' side='right'caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>		<StructureSection load='1lm7' size='340' side='right'caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [https://pdbe.org/1lm7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [https://www.ebi.ac.uk/pdbsum/1lm7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1lm7 ProSAT]</span></td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 3Å</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [https://pdbe.org/1lm7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [https://www.ebi.ac.uk/pdbsum/1lm7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1lm7 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[https://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[https://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[https://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[https://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[https://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.	+	[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[https://omim.org/entry/612908 612908]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[https://omim.org/entry/605676 605676]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[https://omim.org/entry/607450 607450]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[https://omim.org/entry/607655 607655]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[https://omim.org/entry/609638 609638]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.	+	[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 20:		Line 21:
	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1lm7 ConSurf].		</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1lm7 ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
-	<div style="background-color:#fffaf0;">
-	== Publication Abstract from PubMed ==
-	Desmosomes are intercellular junctions in which cadherin cell adhesion molecules are linked to the intermediate filament (IF) system. Desmoplakin is a member of the plakin family of IF-binding proteins. The C-terminal domain of desmoplakin (DPCT) mediates binding to IFs in desmosomes. The DPCT sequence contains three regions, termed A, B and C, consisting of 4.5 copies of a 38-amino acid repeat motif. We demonstrate that these regions form discrete subdomains that bind to IFs and report the crystal structures of domains B and C. In contrast to the elongated structures formed by other kinds of repeat motifs, the plakin repeats form a globular structure with a unique fold. A conserved basic groove found on the domain may represent an IF-binding site.
-
-	Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure.,Choi HJ, Park-Snyder S, Pascoe LT, Green KJ, Weis WI Nat Struct Biol. 2002 Aug;9(8):612-20. PMID:12101406<ref>PMID:12101406</ref>
-
-	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	</div>
-	<div class="pdbe-citations 1lm7" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Choi~~, H J~~]]	+	[[Category: Choi HJ]]
-	[[Category: Green~~, K J~~]]	+	[[Category: Green KJ]]
-	[[Category: Park-Snyder, S]]	+	[[Category: Park-Snyder S]]
-	[[Category: Pascoe~~, L T~~]]	+	[[Category: Pascoe LT]]
-	[[Category: Weis~~, W I]]~~	+	[[Category: Weis WI]]
-	~~[[Category: Plakin repeat]]~~	+
-	~~[[Category: Structural protein~~]]	+

OCA at 06:46, 18 August 2021

OCA — Wed, 18 Aug 2021 06:46:34 GMT

←Older revision		Revision as of 06:46, 18 August 2021
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	<StructureSection load='1lm7' size='340' side='right'caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>		<StructureSection load='1lm7' size='340' side='right'caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [~~http~~://pdbe.org/1lm7 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/1lm7 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=1lm7 ProSAT]</span></td></tr>	+	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [https://pdbe.org/1lm7 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [https://www.ebi.ac.uk/pdbsum/1lm7 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1lm7 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[~~http~~://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[~~http~~://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[~~http~~://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[~~http~~://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[~~http~~://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.	+	[[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[https://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[https://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[https://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[https://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[https://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.	+	[[https://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]

OCA at 12:25, 13 November 2019

OCA — Wed, 13 Nov 2019 12:25:23 GMT

←Older revision		Revision as of 12:25, 13 November 2019
Line 1:		Line 1:

	==Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure==		==Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure==
-	<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>	+	<StructureSection load='1lm7' size='340' side='right'caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>		<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
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	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Choi, H J]]		[[Category: Choi, H J]]
	[[Category: Green, K J]]		[[Category: Green, K J]]

OCA at 08:01, 31 January 2018

OCA — Wed, 31 Jan 2018 08:01:05 GMT

←Older revision		Revision as of 08:01, 31 January 2018
Line 1:		Line 1:
		+
	==Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure==		==Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure==
	<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>		<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>		<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://pdbe.org/1lm7 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>	+	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://pdbe.org/1lm7 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1lm7 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 13:		Line 14:
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/lm/1lm7_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/lm/1lm7_consurf.spt"</scriptWhenChecked>
	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>		<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>

OCA at 09:53, 9 February 2016

OCA — Tue, 09 Feb 2016 09:53:36 GMT

←Older revision		Revision as of 09:53, 9 February 2016
Line 17:		Line 17:
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
	</jmolCheckbox>		</jmolCheckbox>
-	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/~~chain_selection~~.php?pdb_ID=~~2ata~~ ConSurf].	+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1lm7 ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">

OCA at 21:04, 10 September 2015

OCA — Thu, 10 Sep 2015 21:04:01 GMT

←Older revision		Revision as of 21:04, 10 September 2015
Line 2:		Line 2:
	<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>		<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>	+	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://pdbe.org/1lm7 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 27:		Line 27:
	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 1lm7" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Choi, H J]]		[[Category: Choi, H J]]
	[[Category: Green, K J]]		[[Category: Green, K J]]

OCA at 15:53, 5 January 2015

OCA — Mon, 05 Jan 2015 15:53:07 GMT

←Older revision		Revision as of 15:53, 5 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>		<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>	+	</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=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[http://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[http://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[http://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[http://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[http://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.		[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[http://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[http://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[http://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[http://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[http://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
Line 32:		Line 32:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Choi, H J.]]	+	[[Category: Choi, H J]]
-	[[Category: Green, K J.]]	+	[[Category: Green, K J]]
-	[[Category: Park-Snyder, S.]]	+	[[Category: Park-Snyder, S]]
-	[[Category: Pascoe, L T.]]	+	[[Category: Pascoe, L T]]
-	[[Category: Weis, W I.]]	+	[[Category: Weis, W I]]
	[[Category: Plakin repeat]]		[[Category: Plakin repeat]]
	[[Category: Structural protein]]		[[Category: Structural protein]]

OCA at 17:02, 29 September 2014

OCA — Mon, 29 Sep 2014 17:02:58 GMT

←Older revision		Revision as of 17:02, 29 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_1lm7\| PDB=1lm7 \| SCENE= }}~~	+	==Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure==
-	===Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure===	+	<StructureSection load='1lm7' size='340' side='right' caption='[[1lm7]], [[Resolution\|resolution]] 3.00Å' scene=''>
-	~~{{ABSTRACT_PUBMED_12101406}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[1lm7]] is a 2 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=1LM7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1LM7 FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1lm7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1lm7 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1lm7 RCSB], [http://www.ebi.ac.uk/pdbsum/1lm7 PDBsum]</span></td></tr>
-	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[http://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[http://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[http://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref><ref>PMID:15941723</ref><ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[http://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[http://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.	+	<table>
-		+	== Disease ==
-	==Function==	+	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[http://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[http://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[http://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref> <ref>PMID:15941723</ref> <ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[http://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[http://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
		+	== Function ==
	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.		[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.
		+	== Evolutionary Conservation ==
		+	[[Image:Consurf_key_small.gif\|200px\|right]]
		+	Check<jmol>
		+	<jmolCheckbox>
		+	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/lm/1lm7_consurf.spt"</scriptWhenChecked>
		+	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
		+	<text>to colour the structure by Evolutionary Conservation</text>
		+	</jmolCheckbox>
		+	</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary\|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
		+	<div style="clear:both"></div>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Desmosomes are intercellular junctions in which cadherin cell adhesion molecules are linked to the intermediate filament (IF) system. Desmoplakin is a member of the plakin family of IF-binding proteins. The C-terminal domain of desmoplakin (DPCT) mediates binding to IFs in desmosomes. The DPCT sequence contains three regions, termed A, B and C, consisting of 4.5 copies of a 38-amino acid repeat motif. We demonstrate that these regions form discrete subdomains that bind to IFs and report the crystal structures of domains B and C. In contrast to the elongated structures formed by other kinds of repeat motifs, the plakin repeats form a globular structure with a unique fold. A conserved basic groove found on the domain may represent an IF-binding site.

-	~~==About this Structure==~~	+	Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure.,Choi HJ, Park-Snyder S, Pascoe LT, Green KJ, Weis WI Nat Struct Biol. 2002 Aug;9(8):612-20. PMID:12101406<ref>PMID:12101406</ref>
-	~~[[1lm7]] is~~ a ~~2 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=1LM7 OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:012101406</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Choi, H J.]]		[[Category: Choi, H J.]]

OCA at 05:57, 25 March 2013

OCA — Mon, 25 Mar 2013 05:57:21 GMT

←Older revision		Revision as of 05:57, 25 March 2013
Line 1:		Line 1:
-	[[Image:1lm7.png\|left\|200px]]
-
	{{STRUCTURE_1lm7\| PDB=1lm7 \| SCENE= }}		{{STRUCTURE_1lm7\| PDB=1lm7 \| SCENE= }}
-
	===Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure===		===Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure===
		+	{{ABSTRACT_PUBMED_12101406}}

-	~~{{ABSTRACT_PUBMED_12101406}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Defects in DSP are the cause of palmoplantar keratoderma striate type 2 (SPPK2) [MIM:[http://omim.org/entry/612908 612908]]; also known as keratosis palmoplantaris striata II. SPPK2 is characterized by skin thickening in the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.<ref>PMID:9887343</ref> Defects in DSP are the cause of cardiomyopathy dilated with woolly hair and keratoderma (DCWHK) [MIM:[http://omim.org/entry/605676 605676]]; also known as Carvajal syndrome or palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair. DCWHK is an autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.<ref>PMID:11063735</ref> Defects in DSP are the cause of familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:[http://omim.org/entry/607450 607450]]; also known as arrhythmogenic right ventricular cardiomyopathy 8 (ARVC8). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.<ref>PMID:12373648</ref><ref>PMID:15941723</ref><ref>PMID:20031617</ref> Defects in DSP are the cause of skin fragility-woolly hair syndrome (SFWHS) [MIM:[http://omim.org/entry/607655 607655]]. SFWHS is an autosomal recessive genodermatosis characterized by focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.<ref>PMID:11841538</ref> Defects in DSP are the cause of epidermolysis bullosa lethal acantholytic (EBLA) [MIM:[http://omim.org/entry/609638 609638]]. EBLA is characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/DESP_HUMAN DESP_HUMAN]] Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

	==About this Structure==		==About this Structure==
Line 11:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:012101406</ref><references group="xtra"/>	+	<ref group="xtra">PMID:012101406</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Choi, H J.]]		[[Category: Choi, H J.]]

OCA: Protected "1lm7" [edit=sysop:move=sysop]

OCA — Wed, 05 Dec 2012 20:08:01 GMT

Protected "1lm7" [edit=sysop:move=sysop]

←Older revision

Revision as of 20:08, 5 December 2012