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CLCN1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

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).{{cite web | title = Entrez Gene: CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1180}}

Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene.{{cite journal | vauthors = Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ | title = The skeletal muscle chloride channel in dominant and recessive human myotonia | journal = Science | volume = 257 | issue = 5071 | pages = 797–800 |date=Sep 1992 | pmid = 1379744 | doi =10.1126/science.1379744 | bibcode = 1992Sci...257..797K }} 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

References

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Further reading

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  • {{cite journal | vauthors=Hudson AJ, Ebers GC, Bulman DE |title=The skeletal muscle sodium and chloride channel diseases. |journal=Brain |volume=118 |issue= 2|pages= 547–63 |year= 1995 |pmid= 7735894 |doi= 10.1093/brain/118.2.547}}
  • {{cite journal | vauthors=Uchida S, Sasaki S, Marumo F |title=Chloride transport across kidney epithelia through CLC chloride channels. |journal=Nippon Jinzo Gakkai Shi |volume=38 |issue= 7 |pages= 285–9 |year= 1996 |pmid= 8741388 }}
  • {{cite journal | author=Fahlke C |title=Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations. |journal=Kidney Int. |volume=57 |issue= 3 |pages= 780–6 |year= 2000 |pmid= 10720929 |doi= 10.1046/j.1523-1755.2000.00915.x |doi-access= free }}
  • {{cite journal | author=Pusch M |title=Myotonia caused by mutations in the muscle chloride channel gene CLCN1. |journal=Hum. Mutat. |volume=19 |issue= 4 |pages= 423–34 |year= 2002 |pmid= 11933197 |doi= 10.1002/humu.10063 |s2cid=41727736 |doi-access=free }}
  • {{cite journal | author=Colding-Jørgensen E |title=Phenotypic variability in myotonia congenita. |journal=Muscle Nerve |volume=32 |issue= 1 |pages= 19–34 |year= 2005 |pmid= 15786415 |doi= 10.1002/mus.20295 |s2cid=8336138 }}
  • {{cite journal | author=Isobe M |title=Location of gene for beta subunit of human T-cell receptor at band 7q35, a region prone to rearrangements in T cells |journal=Science |volume=228 |issue= 4699 |pages= 580–2 |year= 1985 |pmid= 3983641 |doi=10.1126/science.3983641 |name-list-style=vanc| author2=Erikson J | author3=Emanuel BS | display-authors=3 | last4=Nowell | first4=P. | last5=Croce | first5=C. |bibcode=1985Sci...228..580I }}
  • {{cite journal | vauthors=Lehmann-Horn F, Mailänder V, Heine R, George AL |title=Myotonia levior is a chloride channel disorder |journal=Hum. Mol. Genet. |volume=4 |issue= 8 |pages= 1397–402 |year= 1995 |pmid= 7581380 |doi=10.1093/hmg/4.8.1397 }}
  • {{cite journal | author=George AL |title=Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2071–2 |year= 1995 |pmid= 7874130 |name-list-style=vanc| author2=Sloan-Brown K | author3=Fenichel GM | display-authors=3 | last4=Mitchell | first4=GA | last5=Spiegel | first5=R | last6=Pascuzzi | first6=RM }}
  • {{cite journal | author=Lorenz C |title=Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia |journal=Hum. Mol. Genet. |volume=3 |issue= 6 |pages= 941–6 |year= 1994 |pmid= 7951242 |doi=10.1093/hmg/3.6.941 |name-list-style=vanc| author2=Meyer-Kleine C | author3=Steinmeyer K | display-authors=3 | last4=Koch | first4=Manuela C. | last5=Jentsch | first5=Thomas J. }}
  • {{cite journal | author=Heine R |title=Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1123–8 |year= 1995 |pmid= 7981681 |doi=10.1093/hmg/3.7.1123 |name-list-style=vanc| author2=George AL | author3=Pika U | display-authors=3 | last4=Deymeer | first4=Feza | last5=Rüdel | first5=Reinhardt | last6=Lehmann-Horn | first6=Frank }}
  • {{cite journal | author=George AL |title=Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita) |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 305–10 |year= 1995 |pmid= 7981750 |doi= 10.1038/ng0493-305 |name-list-style=vanc| author2=Crackower MA | author3=Abdalla JA | display-authors=3 | last4=Hudson | first4=Arthur J. | last5=Ebers | first5=George C. |s2cid=12286250 }}
  • {{cite journal | author=Steinmeyer K |title=Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen) |journal=EMBO J. |volume=13 |issue= 4 |pages= 737–43 |year= 1994 |pmid= 8112288 |doi= 10.1002/j.1460-2075.1994.tb06315.x| pmc=394869 |name-list-style=vanc| author2=Lorenz C | author3=Pusch M | display-authors=3 | last4=Koch | first4=MC | last5=Jentsch | first5=TJ }}
  • {{cite journal | author=Koch MC |title=Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker) |journal=J. Med. Genet. |volume=30 |issue= 11 |pages= 914–7 |year= 1994 |pmid= 8301644 |doi=10.1136/jmg.30.11.914 | pmc=1016598 |name-list-style=vanc| author2=Ricker K | author3=Otto M | display-authors=3 | last4=Wolf | first4=F | last5=Zoll | first5=B | last6=Lorenz | first6=C | last7=Steinmeyer | first7=K | last8=Jentsch | first8=T J }}
  • {{cite journal | author=Meyer-Kleine C |title=Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia |journal=Am. J. Hum. Genet. |volume=57 |issue= 6 |pages= 1325–34 |year= 1996 |pmid= 8533761 | pmc=1801423 |name-list-style=vanc| author2=Steinmeyer K | author3=Ricker K | display-authors=3 | last4=Jentsch | first4=TJ | last5=Koch | first5=MC }}
  • {{cite journal | vauthors=Mailänder V, Heine R, Deymeer F, Lehmann-Horn F |title=Novel muscle chloride channel mutations and their effects on heterozygous carriers |journal=Am. J. Hum. Genet. |volume=58 |issue= 2 |pages= 317–24 |year= 1996 |pmid= 8571958 | pmc=1914535 }}
  • {{cite journal | vauthors=Pusch M, Steinmeyer K, Koch MC, Jentsch TJ |title=Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel |journal=Neuron |volume=15 |issue= 6 |pages= 1455–63 |year= 1996 |pmid= 8845168 |doi=10.1016/0896-6273(95)90023-3 |s2cid=18808219 |doi-access=free }}
  • {{cite journal | vauthors=Fahlke C, Beck CL, George AL |title=A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 6 |pages= 2729–34 |year= 1997 |pmid= 9122265 |doi=10.1073/pnas.94.6.2729 | pmc=20158 |bibcode=1997PNAS...94.2729F |doi-access=free }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonia-c GeneReviews/NCBI/NIH/UW entry on Myotonia Congenita]
  • {{MeshName|CLCN1+protein,+human}}
  • {{UCSC gene info|CLCN1}}

{{NLM content}}

{{Ion channels|g4}}

Category:Chloride channels

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