Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene.[5] CLCN1 regulates the electrical excitability of the skeletal muscle membrane. Mutations in this gene cause the human muscle disorder myotonia congenita, also known as Thomsen disease (when autosomal dominant) and Becker disease (when recessive).[6]
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CLCN1 is one of nine genes (CLCN1-CLCN7, CLCNKa and CLCNKb) that make up the CLCN group of voltage-gated chloride channel genes.[7] While these genes have significant sequence homology, they have diverse functional characteristics.[6]
CLCN1 is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of ions into and out of muscle cells. CLCN1 forms an ion channel that controls the flow of negatively charged chloride ions into these cells. The main function of this channel is to stabilize the cells' electrical charge, enabling muscles to contract normally. In people with congenital myotonia due to a mutation in CLCN1, the ion channel admits too few chloride ions into the cell. This shortage of chloride ions causes prolonged muscle contractions, which are the hallmark of myotonia.
