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clcn1

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Official Full Name
chloride channel, voltage-sensitive 1
Background
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.
Synonyms
CLCN1; chloride channel 1; chloride channel protein 1; Chloride channel protein skeletal muscle; skeletal muscle; Chloride channel protein; CIC 1; CIC1; ClC-1; CLC1; CLCN1_HUMAN; MGC138361; MGC142055; OTTMUSP00000052750; OTTMUSP00000052753; OTTMUSP00000052757; arrested development of righting response; chloride channel protein, skeletal muscle; adr; mto; SMCC1; nmf355; myotonia; chloride channel, voltage-sensitive 1; chloride channel 1, skeletal muscle; ClC 1; Thomsen disease; autosomal dominant