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).[5]
Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene.[6] 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.
^ abcGRCh38: Ensembl release 89: ENSG00000188037 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000029862 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
humans by loss-of-function mutations in the gene CLCN1. This is the gene encoding the protein CLCN1, that forms the ClC-1 chloride channel, critical for...
channel in the muscles of the skeleton (skeletal muscle chloride channel 1, CLCN1). Congenital myotonia can be inherited as an autosomal dominant trait (with...
other types of anion channels. Three CLC subfamilies are found in animals. CLCN1 is involved in setting and restoring the resting membrane potential of skeletal...
affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle. The...
Thomsen's disease exist. Both diseases are caused by mutations in the gene CLCN1 encoding the ClC-1 ion channel. More than 130 different mutations exist...
Another example is anthracene-9-carboxylic acid, a potent blocker of the CLCN1-type chloride channel found in skeletal muscle, which is used to study animal...
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
these have been identified as the cause of genetic diseases. Mutations in CLCN1 lead to myotonia (OMIM: 160800), mutations in CLCN2 can lead to idiopathic...
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
Biol. Chem. 281 (40): 29448–54. doi:10.1074/jbc.M605919200. PMID 16873362. CLCN1+protein,+human at the U.S. National Library of Medicine Medical Subject...
including 11 coding exons (from 2 to 12). The CLCN5 gene has 8 paralogues (CLCN1, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLCNKA, CLCNKB) and 201 orthologues...
2013). "Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy". Neurology. 80 (12): 1078–1085. doi:10.1212/WNL.0b013e31828868e7...
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