Gene Review:
CLCN1 - chloride channel, voltage-sensitive 1
Homo sapiens
Synonyms:
CLC1, Chloride channel protein 1, Chloride channel protein, skeletal muscle, ClC-1
James Burge,
Lazarowski,
Tarran,
Dunø,
Boucher,
Udd,
Vissing,
Grubb,
Camerino,
Krahe,
Grunnet,
Wallgren-Pettersson,
Pierno,
Cao,
Barchi,
Falck,
Colding-Jørgensen,
van Heusden,
Liantonio,
Bertorello,
Accardi,
Rich,
Huang,
Kraner,
Okada,
Li,
Kalimo,
Brand,
Weinman,
Schwartz,
Vo,
Pusch,
De Luca,
Tortorella,
Wang,
Jespersen,
- A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Fahlke, C., Beck, C.L., George, A.L. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Myotonia levior is a chloride channel disorder. Lehmann-Horn, F., Mailänder, V., Heine, R., George, A.L. Hum. Mol. Genet. (1995)
- Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Udd, B., Krahe, R., Wallgren-Pettersson, C., Falck, B., Kalimo, H. Neuromuscul. Disord. (1997)
- Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Charlet-B, N., Savkur, R.S., Singh, G., Philips, A.V., Grice, E.A., Cooper, T.A. Mol. Cell (2002)
- The skeletal muscle sodium and chloride channel diseases. Hudson, A.J., Ebers, G.C., Bulman, D.E. Brain (1995)
- Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP. Bennetts, B., Parker, M.W., Cromer, B.A. J. Biol. Chem. (2007)
- Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). Steinmeyer, K., Lorenz, C., Pusch, M., Koch, M.C., Jentsch, T.J. EMBO J. (1994)
- An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels. Fahlke, C., Rüdel, R., Mitrovic, N., Zhou, M., George, A.L. Neuron (1995)
- Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Meyer-Kleine, C., Steinmeyer, K., Ricker, K., Jentsch, T.J., Koch, M.C. Am. J. Hum. Genet. (1995)
- Novel muscle chloride channel mutations and their effects on heterozygous carriers. Mailänder, V., Heine, R., Deymeer, F., Lehmann-Horn, F. Am. J. Hum. Genet. (1996)
- Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Lorenz, C., Meyer-Kleine, C., Steinmeyer, K., Koch, M.C., Jentsch, T.J. Hum. Mol. Genet. (1994)
- Chloride channels and hepatocellular function: prospects for molecular identification. Li, X., Weinman, S.A. Annu. Rev. Physiol. (2002)
- Expression of CLCN voltage-gated chloride channel genes in human blood vessels. Lamb, F.S., Clayton, G.H., Liu, B.X., Smith, R.L., Barna, T.J., Schutte, B.C. J. Mol. Cell. Cardiol. (1999)
- Differential expression of the human chloride channel genes in the trabecular meshwork under stress conditions. Comes, N., Gasull, X., Gual, A., Borrás, T. Exp. Eye Res. (2005)
- Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Wu, F.F., Ryan, A., Devaney, J., Warnstedt, M., Korade-Mirnics, Z., Poser, B., Escriva, M.J., Pegoraro, E., Yee, A.S., Felice, K.J., Giuliani, M.J., Mayer, R.F., Mongini, T., Palmucci, L., Marino, M., Rüdel, R., Hoffman, E.P., Fahlke, C. Brain (2002)
- Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). George, A.L., Crackower, M.A., Abdalla, J.A., Hudson, A.J., Ebers, G.C. Nat. Genet. (1993)
- The skeletal muscle chloride channel in dominant and recessive human myotonia. Koch, M.C., Steinmeyer, K., Lorenz, C., Ricker, K., Wolf, F., Otto, M., Zoll, B., Lehmann-Horn, F., Grzeschik, K.H., Jentsch, T.J. Science (1992)
- Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1. Estévez, R., Schroeder, B.C., Accardi, A., Jentsch, T.J., Pusch, M. Neuron (2003)
- Separation of drug transport and chloride channel functions of the human multidrug resistance P-glycoprotein. Gill, D.R., Hyde, S.C., Higgins, C.F., Valverde, M.A., Mintenig, G.M., Sepúlveda, F.V. Cell (1992)
- A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. Jeck, N., Waldegger, P., Doroszewicz, J., Seyberth, H., Waldegger, S. Kidney Int. (2004)
- Human ClC-3 is not the swelling-activated chloride channel involved in cell volume regulation. Weylandt, K.H., Valverde, M.A., Nobles, M., Raguz, S., Amey, J.S., Diaz, M., Nastrucci, C., Higgins, C.F., Sardini, A. J. Biol. Chem. (2001)
- A short CIC-2 mRNA transcript is produced by exon skipping. Chu, S., Murray, C.B., Liu, M.M., Zeitlin, P.L. Nucleic Acids Res. (1996)
- A short segment of the R domain of cystic fibrosis transmembrane conductance regulator contains channel stimulatory and inhibitory activities that are separable by sequence modification. Xie, J., Adams, L.M., Zhao, J., Gerken, T.A., Davis, P.B., Ma, J. J. Biol. Chem. (2002)
- Increased expression of interleukin-9, interleukin-9 receptor, and the calcium-activated chloride channel hCLCA1 in the upper airways of patients with cystic fibrosis. Hauber, H.P., Manoukian, J.J., Nguyen, L.H., Sobol, S.E., Levitt, R.C., Holroyd, K.J., McElvaney, N.G., Griffin, S., Hamid, Q. Laryngoscope (2003)
- An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation. Lamont, P.J., Jacob, R.L., Mastaglia, F.L., Laing, N.G. J. Neurol. Neurosurg. Psychiatr. (2004)
- PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. Phillips, M.F., Rogers, M.T., Barnetson, R., Braun, C., Harley, H.G., Myring, J., Stevens, D., Wiles, C.M., Harper, P.S. Neuromuscul. Disord. (1998)
- Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). Koch, M.C., Ricker, K., Otto, M., Wolf, F., Zoll, B., Lorenz, C., Steinmeyer, K., Jentsch, T.J. J. Med. Genet. (1993)
- Chloride channel expression in cultured human fetal RPE cells: response to oxidative stress. Wills, N.K., Weng, T., Mo, L., Hellmich, H.L., Yu, A., Wang, T., Buchheit, S., Godley, B.F. Invest. Ophthalmol. Vis. Sci. (2000)
- Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Zhang, J., Bendahhou, S., Sanguinetti, M.C., Ptácek, L.J. Neurology (2000)
- Novel CLCN1 mutations in Taiwanese patients with myotonia congenita. Jou, S.B., Chang, L.I., Pan, H., Chen, P.R., Hsiao, K.M. J. Neurol. (2004)
- Pharmacological characterization of chloride channels belonging to the ClC family by the use of chiral clofibric acid derivatives. Pusch, M., Liantonio, A., Bertorello, L., Accardi, A., De Luca, A., Pierno, S., Tortorella, V., Camerino, D.C. Mol. Pharmacol. (2000)
- Altered gene expression in steroid-treated denervated muscle. Rich, M.M., Kraner, S.D., Barchi, R.L. Neurobiol. Dis. (1999)
- Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Dunø, M., Colding-Jørgensen, E., Grunnet, M., Jespersen, T., Vissing, J., Schwartz, M. Eur. J. Hum. Genet. (2004)