SCN1A - sodium voltage-gated channel alpha subunit 1 Gene

中文名称：钠电压门控通道 α 亚基 1

种属: Rattus norvegicus

关于 SCN1A

功能概要

该基因编码的蛋白可启动钠离子结合活性和电压门控钠通道活性。参与神经元动作电位。位于质膜。电压门控钠通道复合体的一部分。是突触前膜的组成部分。该基因的人类直系同源物与 Dravet 综合征有关；发育性和癫痫性脑病；家族性偏瘫性偏头痛 3；全身性癫痫伴热性惊厥；和全身性癫痫伴热性惊厥加 2。与人类 SCN1A（钠电压门控通道 α 亚基 1）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables sodium ion binding activity and voltage-gated Sodium Channel activity. Involved in neuronal action potential. Located in plasma membrane. Part of voltage-gated Sodium Channel complex. Is integral component of presynaptic membrane. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to human SCN1A (sodium voltage-gated channel alpha subunit 1). [provided by Alliance of Genome Resources, Apr 2022]