Scn2a - sodium channel, voltage-gated, type II, alpha Gene

中文名称：钠通道，电压门控， II 型， α

种属: Mus musculus

同用名: Nav1.2; Scn2a1; 6430408L10; A230052E19Rik

关于 Scn2a

功能概要

电压门控钠通道是一种跨膜糖蛋白复合物，由具有四个重复结构域的大 α 亚基组成，每个重复结构域由六个跨膜片段和一个或多个调节性 β 亚基组成。电压门控钠通道负责神经元和肌肉中动作电位的产生和传播。该基因编码钠通道α亚基基因家族的一个成员。在人类中，该基因的变体与癫痫症和自闭症谱系障碍有关。敲除突变纯合子小鼠死于严重缺氧和广泛的神经元细胞死亡，而功能突变的获得导致进行性癫痫症。可变剪接导致多个转录本变体。 [RefSeq 提供，2016 年 11 月]

Voltage-gated sodium channels are Transmembrane Glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the Sodium Channel alpha subunit gene family. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]