CLCN1

Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant), also known as CLCN1, is a human gene.

PBB_Summary
section_title =
summary_text = 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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1180| accessdate = ]

ee also

* Chloride channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hudson AJ, Ebers GC, Bulman DE |title=The skeletal muscle sodium and chloride channel diseases. |journal=Brain |volume=118 ( Pt 2) |issue= |pages= 547–63 |year= 1995 |pmid= 7735894 |doi=
*cite journal | author=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 |doi=
*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
*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
*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
*cite journal | author=Koch MC, Steinmeyer K, Lorenz C, "et al." |title=The skeletal muscle chloride channel in dominant and recessive human myotonia. |journal=Science |volume=257 |issue= 5071 |pages= 797–800 |year= 1992 |pmid= 1379744 |doi=
*cite journal | author=Isobe M, Erikson J, Emanuel BS, "et al." |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=
*cite journal | author=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=
*cite journal | author=George AL, Sloan-Brown K, Fenichel GM, "et 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 |doi=
*cite journal | author=Lorenz C, Meyer-Kleine C, Steinmeyer K, "et al." |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=
*cite journal | author=Heine R, George AL, Pika U, "et al." |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=
*cite journal | author=George AL, Crackower MA, Abdalla JA, "et 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
*cite journal | author=Steinmeyer K, Lorenz C, Pusch M, "et al." |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=
*cite journal | author=Koch MC, Ricker K, Otto M, "et al." |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=
*cite journal | author=Meyer-Kleine C, Steinmeyer K, Ricker K, "et al." |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 |doi=
*cite journal | author=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 |doi=
*cite journal | author=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=
*cite journal | author=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=

External links

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