CLCN1 Back

chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

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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

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CLCN1 is highly significantly mutated in
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CLCN1 is significantly mutated in
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CLCN1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for CLCN1