Scn5a - sodium voltage-gated channel alpha subunit 5 Gene

中文名称：钠电压门控通道 α 亚基 5

种属: Rattus norvegicus

同用名: SCAL; Nav1.5

关于 Scn5a

功能概要

该基因编码的蛋白可启动锚蛋白结合活性；成纤维细胞生长因子结合活性；电压门控钠通道活动参与心肌细胞动作电位。参与多个过程，包括动物器官发育；对参与肌肉适应调节的去神经支配的反应；和钠离子跨质膜输入。位于丁字管和闰盘内。脑缺血和充血性心力衰竭的生物标志物。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 ankyrin binding activity; Fibroblast Growth Factor binding activity; and voltage-gated Sodium Channel activity involved in cardiac muscle cell action potential. Involved in several processes, including animal organ development; response to denervation involved in regulation of muscle adaptation; and sodium ion import across plasma membrane. Located in T-tubule and intercalated disc. Biomarker of brain ischemia and congestive heart failure. 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]