基因注释：SCN4A
官方信息
官方名称：sodium voltage-gated channel alpha subunit 4
功能摘要：Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008].
作为靶基因的剪接因子
关联疾病
该基因暂无关联疾病记录