NCBI Description of CLCN1
|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.|
Community Annotation of CLCN1 Add / Edit CLCN1: Annotations
No community annotations yet for CLCN1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.