Scn8a - sodium channel, voltage-gated, type VIII, alpha Gene

中文名称：钠通道，电压门控，V II I 型， α

种属: Mus musculus

同用名: dmu; med; mnd2; nmf2; seal; NaCh6; mnd-2; nmf58; nur14; Nav1.6; nmf335; C630029C19Rik

关于 Scn8a

功能概要

预测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。在几个过程的上游或内部行动，包括成人步行行为；肌肉器官发育；和声音的感官知觉。位于多个细胞成分中，包括 Z 盘；神经细胞体；和朗飞的节点。钠通道复合体的一部分。以多种结构表达，包括心脏；后肾;神经系统;和髓核。用于研究早期婴儿癫痫性脑病和癫痫。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]

Predicted to enable sodium ion binding activity and voltage-gated Sodium Channel activity. Acts upstream of or within several processes, including adult walking behavior; muscle organ development; and sensory perception of sound. Located in several cellular components, including Z disc; neuronal cell body; and node of Ranvier. Part of Sodium Channel complex. Is expressed in several structures, including heart; metanephros; nervous system; and nucleus pulposus. Used to study early infantile epileptic encephalopathy and epilepsy. 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]