Scn8a - sodium voltage-gated channel alpha subunit 8 Gene

中文名称：钠电压门控通道 α 亚基 8

种属: Rattus norvegicus

关于 Scn8a

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。参与神经系统发育；神经元动作电位；和钠离子运输。位于轴突起始段；朗飞节点；和质膜。是膜的组成部分。电压门控钠通道复合体的一部分。在谷氨酸能突触和平行纤维到浦肯野细胞突触中活跃。是突触后密度膜的组成部分和突触前活动区膜的组成部分。充血性心力衰竭的生物标志物。该基因的人类直系同源基因与良性家族性新生儿癫痫以及发育和癫痫性脑病 13 相关。与人类 SCN8A（钠电压门控通道 α 亚基 8）直系同源基因。 [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 nervous system development; neuronal action potential; and sodium ion transport. Located in axon initial segment; node of Ranvier; and plasma membrane. Is integral component of membrane. Part of voltage-gated Sodium Channel complex. Is active in glutamatergic synapse and parallel fiber to Purkinje cell synapse. Is integral component of postsynaptic density membrane and integral component of presynaptic active zone membrane. Biomarker of congestive heart failure. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8). [provided by Alliance of Genome Resources, Apr 2022]