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Obscurin
Obscurin is a protein that in humans is encoded by the ''OBSCN'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84033 )〕 Obscurin belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. A mutation in the ''OBSCN'' gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases.
==Structure==
Human obscurin may exist as multiple splice variants of approximately 720 kDa, however the full-length nature of only one has been described to date. Obscurin is expressed in cardiac and skeletal muscle. The obscurin gene spans more than 150 kb, contains over 80 exons. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains.〔 The dominant location of obscurin in mature myofibrils is at the sarcomeric M-band.〔 Titin, obscurin, obscurin-like-1 and myomesin form a ternary complex at sarcomeric M-bands that is critical for sarcomere mechanics.
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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