2yqg: Difference between revisions
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{{STRUCTURE_2yqg| PDB=2yqg | SCENE= }} | {{STRUCTURE_2yqg| PDB=2yqg | SCENE= }} | ||
===Solution structure of the first cadherin domain from human Desmoglein-2=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DSG2_HUMAN DSG2_HUMAN]] Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:[http://omim.org/entry/610193 610193]]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). 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:16773573</ref><ref>PMID:20031617</ref><ref>PMID:19863551</ref><ref>PMID:21062920</ref> Genetic variations in DSG2 are the cause of susceptibility to cardiomyopathy dilated type 1BB (CMD1BB) [MIM:[http://omim.org/entry/612877 612877]]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:18678517</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DSG2_HUMAN DSG2_HUMAN]] Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Cadherin|Cadherin]] | *[[Cadherin|Cadherin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
