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DSC2
Desmocollin-2 is a protein that in humans is encoded by the ''DSC2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1824 )〕 Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in ''DSC2'' have been causally linked to arrhythmogenic right ventricular cardiomyopathy.
== Structure ==
Desmocollin-2 is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. The desmocollin family members are arranged as closely linked genes on human chromosome 18q12.1. Human ''DSC2'' consists of greater than 32 kb of DNA and has 17 exons, with exon 16 being alternatively spliced and encoding distinct isoforms. Desmocollin-2 contains five N-terminal extracellular domains, a transmembrane-spanning domain, and a C-terminal cytoplasmic tail.〔 Desmocollin-2 binds to desmoglein family members through a calcium-dependent interaction with its extracellular domains, and to plakoglobin through its cytoplasmic tail. Desmocollin-2 is ubiquitously expressed in desmosomal tissues, such as skin epithelia, and is the only desmocollin isoform expressed in human cardiac muscle, where it localizes to desmosomes within intercalated discs.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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