Aliases for CLCN1 Gene
External Ids for CLCN1 Gene
Previous GeneCards Identifiers for CLCN1 Gene
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]
GeneCards Summary for CLCN1 Gene
CLCN1 (Chloride Voltage-Gated Channel 1) is a Protein Coding gene. Diseases associated with CLCN1 include Myotonia Congenita, Autosomal Recessive and Myotonia Congenita, Autosomal Dominant. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN2.
UniProtKB/Swiss-Prot Summary for CLCN1 Gene
Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).