2d46
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2d46]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D46 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2D46 FirstGlance]. <br> | <table><tr><td colspan='2'>[[2d46]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D46 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2D46 FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">CACNB4 ([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">CACNB4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=2d46 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d46 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2d46 RCSB], [http://www.ebi.ac.uk/pdbsum/2d46 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=2d46 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2d46 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2d46 RCSB], [http://www.ebi.ac.uk/pdbsum/2d46 PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/CACB4_HUMAN CACB4_HUMAN]] Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9) [MIM:[http://omim.org/entry/607682 607682]]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.<ref>PMID:10762541</ref> Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:[http://omim.org/entry/607682 607682]]. EJM6 is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:[http://omim.org/entry/613855 613855]]. EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.<ref>PMID:10762541</ref> | [[http://www.uniprot.org/uniprot/CACB4_HUMAN CACB4_HUMAN]] Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9) [MIM:[http://omim.org/entry/607682 607682]]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.<ref>PMID:10762541</ref> Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:[http://omim.org/entry/607682 607682]]. EJM6 is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:[http://omim.org/entry/613855 613855]]. EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.<ref>PMID:10762541</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Horne, W A | + | [[Category: Horne, W A]] |
| - | [[Category: Lyons, B A | + | [[Category: Lyons, B A]] |
| - | [[Category: Rithner, C D | + | [[Category: Rithner, C D]] |
| - | [[Category: Vendel, A C | + | [[Category: Vendel, A C]] |
[[Category: Alternative spliving]] | [[Category: Alternative spliving]] | ||
[[Category: Beta4a subunit]] | [[Category: Beta4a subunit]] | ||
Revision as of 16:27, 15 January 2015
Solution Structure of the Human Beta4a-A Domain
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