🧬 基因注释：CACNA1S
📝 官方信息
官方名称：calcium voltage-gated channel subunit alpha1 S
功能摘要：This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008].
🏥 关联疾病
该基因暂无关联疾病记录