CLCN1

Chloride channel protein, skeletal muscle (CLCN1) is a is_associated_with::protein that in humans is encoded by the CLCN1 is_associated_with::gene. Mutations in this protein cause is_associated_with::congenital myotonia.

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 is_associated_with::ions into and out of muscle cells. CLCN1 forms an is_associated_with::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.