CLCN1 Products

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) whichdemonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encodedby this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause twoforms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia(Thomsen). (provided by RefSeq)