靶标：
CLCN1
产品别名：
CLC1； CLCN1； chloride voltage-gated channel 1； chloride voltage-gated channel 1； chloride channel protein 1； chloride channel 1, skeletal muscle； chloride channel protein, skeletal muscle； chloride channel, voltage-sensitive 1； clC-1；
背景信息：
chloride voltage-gated channel 1(CLCN1) Homo sapiens 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],
