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ANK2
Ankyrin-B, also known as Ankyrin-2, is a protein which in humans is encoded by the ''ANK2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=287 )〕 Ankyrin-B is ubiquitously expressed, but shows high expression in cardiac muscle. Ankyrin-B plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in cardiomyocytes, as well as in costamere structures. Mutations in ankyrin-B cause a dominantly-inherited, cardiac arrhythmia syndrome known as ankyrin-B syndrome as well as sick sinus syndrome; mutations have also been associated to a lesser degree with hypertrophic cardiomyopathy. Alterations in ankyrin-B expression levels are observed in human heart failure.
==Structure==
Ankyrin-B protein is around 220 kDa, with several isoforms.〔(【引用サイトリンク】url=http://www.uniprot.org/uniprot/Q01484 )〕 The ''ANK2'' gene is approximately 560 kb in size and consists of 53 exons on human chromosome 4; ''ANK2'' is also transcriptionally regulated via over 30 alternative splicing events with variable expression of isoforms in cardiac muscle. Ankyrin-B is a member of the ankyrin family of proteins, and is a modular protein which is composed of three structural domains: an N-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain and death domain; and a C-terminal regulatory domain which is the least conserved and subject to variation, and determines ankyrin-B activity.〔 The membrane-binding region of ankyrin-B is composed of 24 consecutive ankyrin repeats, and it is the membrane-binding domain of ankyrins that confer functional differences among ankyrin isoforms.〔 Though ubiquitously expressed, ankyrin-B shows high expression levels in cardiac muscle, and is expressed 10-fold lower levels in skeletal muscle, suggesting that ankyrin-B plays a specifically adapted functional role in cardiac muscle.
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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