🧬 基因注释：CLCN1
📝 官方信息
官方名称：chloride voltage-gated channel 1
功能摘要：The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012].
🎯 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