Scn4a - sodium channel, voltage-gated, type IV, alpha Gene

中文名称：钠通道，电压门控， IV 型， α

种属: Mus musculus

同用名: mH2; SkM1; Nav1.4

关于 Scn4a

功能概要

该基因编码的蛋白可启动电压门控钠通道活动。作用于钠离子运输的上游或内部。预计是质膜的组成部分。预计是电压门控钠通道复合体的一部分。预计在轴突中活跃。表达在心里；心室;和睾丸。用于研究高钾性周期性麻痹和低钾性周期性麻痹。该基因的人类直系同源基因与先天性肌无力综合征 16 有关；高血钾性周期性麻痹;和 Von Eulenburg 的先天性副肌强直。与人类 SCN4A（钠电压门控通道 α 亚基 4）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables voltage-gated Sodium Channel activity. Acts upstream of or within sodium ion transport. Predicted to be integral component of plasma membrane. Predicted to be part of voltage-gated Sodium Channel complex. Predicted to be active in axon. Is expressed in heart; heart ventricle; and testis. Used to study hyperkalemic periodic paralysis and hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 16; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg. Orthologous to human SCN4A (sodium voltage-gated channel alpha subunit 4). [provided by Alliance of Genome Resources, Apr 2022]