SNTG2 - syntrophin gamma 2 Gene

中文名称：肌营养蛋白γ2

种属: Homo sapiens

同用名: SYN5; G2SYN

关于 SNTG2

功能概要

该基因编码属于 syntrophin 家族的蛋白质。 Syntrophins 是细胞质外周膜蛋白，可与机械敏感钠通道的成分以及抗肌萎缩蛋白和抗肌萎缩蛋白相关蛋白的极端羧基末端结构域结合。该蛋白质产物的 PDZ 结构域与影响通道门控的机械敏感钠通道的蛋白质成分相互作用。这种蛋白质产物的缺乏或减少与杜氏肌营养不良症有关。有可变剪接的证据，但尚未描述这些变体的全长性质。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive Sodium Channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]