SNTG1 - syntrophin gamma 1 Gene

中文名称：肌营养蛋白γ1

种属: Homo sapiens

同用名: SYN4; G1SYN

关于 SNTG1

功能概要

该基因编码的蛋白质是 syntrophin 家族的一员。 Syntrophins 是细胞质外周膜蛋白，通常包含 2 个 pleckstrin 同源 (PH) 结构域、一个将第一个 PH 结构域一分为二的 PDZ 结构域和一个介导抗肌萎缩蛋白结合的 C 末端结构域。该家族成员在介导 γ-烯醇化酶转运至质膜和增强其神经营养活性方面发挥作用。该基因的突变与特发性脊柱侧弯有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2016 年 3 月]

The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]