Aliases for CLCN1 Gene
External Ids 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 Channel, Voltage-Sensitive 1) is a Protein Coding gene. Diseases associated with CLCN1 include myotonia congenita, recessive and myotonia congenita, dominant. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include chloride channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN7.
UniProtKB/Swiss-Prot for CLCN1 Gene
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport