CLCN1
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Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene.[1] Mutations in this protein cause 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 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.
See also
External links
- GeneReviews/NCBI/NIH/UW entry on Myotonia Congenita
- CLCN1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ (1992). "The skeletal muscle chloride channel in dominant and recessive human myotonia". Science. 257 (5071): 797–800. doi:10.1126/science.1379744. PMID 1379744.
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Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.