Scn5a - sodium channel, voltage-gated, type V, alpha Gene

中文名称：钠通道，电压门控，V 型，alpha

种属: Mus musculus

同用名: mH1; SkM1; SkM2; Nav1.5; Nav1.5c

关于 Scn5a

功能概要

该基因编码的蛋白可启动参与 SA 结细胞动作电位的支架蛋白结合活性和电压门控钠通道活性。作用于多个过程的上游或内部，包括参与收缩的心肌细胞动作电位；调节心脏收缩；和钠离子跨质膜输入。位于多个细胞成分中，包括 T 管；闰盘;和侧质膜。钠通道复合体的一部分。以多种结构表达，包括颅神经节；表皮;心;感觉器官；和骨架。用于研究Brugada综合征1；扩张型心肌病 1E；长 QT 综合征 3；进行性家族性心脏传导阻滞 IA 型；和病窦综合征。该基因的人类直系同源物与心脏传导疾病有关（多个）；内在性心肌病（多发性）；和婴儿猝死综合症。与人类 SCN5A（钠电压门控通道 α 亚基 5）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables scaffold protein binding activity and voltage-gated Sodium Channel activity involved in SA node cell action potential. Acts upstream of or within several processes, including cardiac muscle cell action potential involved in contraction; regulation of heart contraction; and sodium ion import across plasma membrane. Located in several cellular components, including T-tubule; intercalated disc; and lateral plasma membrane. Part of Sodium Channel complex. Is expressed in several structures, including cranial ganglion; epidermis; heart; sensory organ; and skeleton. Used to study Brugada syndrome 1; dilated cardiomyopathy 1E; long QT syndrome 3; progressive familial heart block type IA; and sick sinus syndrome. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Orthologous to human SCN5A (sodium voltage-gated channel alpha subunit 5). [provided by Alliance of Genome Resources, Apr 2022]