CLCN1, Official Symbol CLCN1provided by HGNC Official Full Name chloride voltage-gated channel 1provided by HGNC Primary source HGNC:HGNC:2019 See related Ensembl:ENSG00000188037 MIM:118425; AllianceGenome:HGNC:2019 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CLC1 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all