• Chloride channel protein, skeletal muscle
• ClC-1
• CLC1

>lcl|BSEQ0013586|Chloride channel protein 1
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL

>lcl|BSEQ0013587|Chloride channel protein 1 (CLCN1)
ATGGAGCAATCCCGGTCACAGCAGCGTGGGGGTGAACAAAGCTGGTGGGGTAGTGACCCC
CAGTACCAGTATATGCCCTTTGAACACTGCACCAGCTACGGACTGCCCTCTGAGAATGGG
GGCCTCCAGCACAGGCTCCGGAAGGATGCAGGCCCCCGCCACAACGTCCACCCCACACAG
ATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAG
AAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAA
GATTGTATCCACCGCCTGGGACAGGTGGTGAGAAGAAAATTAGGGGAAGACTGGATCTTT
CTGGTGCTTCTGGGACTGCTGATGGCTCTGGTCAGCTGGAGCATGGACTACGTCAGTGCC
AAAAGCCTTCAGGCCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAG
TTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCAC
CTCATCTCTCCCCAGGCTGTTGGCTCTGGAATCCCCGAAATGAAGACAATACTTCGTGGG
GTTGTCCTGAAGGAATACCTCACAATGAAAGCCTTTGTGGCCAAGGTTGTCGCCCTGACT
GCGGGCCTGGGCAGTGGCATCCCCGTGGGGAAAGAGGGCCCCTTCGTCCACATTGCCAGC
ATCTGTGCTGCTGTCCTCAGCAAATTCATGTCTGTGTTCTGCGGGGTATATGAGCAGCCA
TACTACTACTCTGATATCCTGACGGTGGGCTGTGCTGTGGGAGTCGGCTGTTGTTTTGGG
ACACCACTTGGAGGAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGG
AACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCA
GTGTGGAACAAGGATGCTGTCACCATCACTGCTCTGTTCAGAACCAATTTCCGAATGGAT
TTCCCCTTTGACCTGAAGGAACTACCAGCTTTTGCTGCCATCGGGATTTGCTGTGGGCTC
CTGGGAGCTGTATTTGTGTATCTGCATCGCCAAGTCATGCTCGGTGTCCGAAAGCACAAG
GCCCTCAGCCAGTTTCTTGCTAAGCACCGCCTGCTGTATCCTGGAATTGTTACCTTTGTC
ATTGCCTCATTCACCTTCCCACCAGGAATGGGTCAATTCATGGCTGGAGAGTTGATGCCC
CGCGAAGCCATCAGTACTTTGTTTGACAACAATACATGGGTGAAACACGCGGGTGATCCT
GAGAGCCTGGGCCAGTCAGCTGTGTGGATTCACCCCCGGGTCAACGTTGTCATCATCATC
TTTCTCTTCTTCGTCATGAAGTTCTGGATGTCCATCGTGGCCACCACTATGCCCATACCC
TGCGGAGGCTTCATGCCTGTGTTTGTGCTAGGAGCTGCATTTGGAAGGCTGGTAGGAGAA
ATCATGGCCATGCTCTTTCCTGATGGTATTTTGTTTGATGACATCATCTACAAGATCCTA
CCTGGGGGCTATGCAGTAATTGGAGCAGCAGCGCTGACTGGTGCCGTTTCCCACACAGTC
TCCACAGCTGTGATTTGCTTCGAATTAACGGGTCAGATTGCTCACATCCTGCCCATGATG
GTGGCTGTTATCTTGGCCAACATGGTGGCCCAGAGCCTGCAGCCCTCTCTCTATGACAGC
ATCATCCAGGTCAAGAAGCTACCCTACTTGCCTGACCTTGGCTGGAACCAGCTCAGCAAA
TATACCATCTTTGTTGAGGACATCATGGTACGTGATGTGAAGTTTGTTTCAGCTTCTTAC
ACATATGGGGAGTTGCGAACCCTGCTCCAGACCACCACAGTCAAGACTTTACCACTGGTT
GACTCAAAAGATTCAATGATCCTGCTGGGCTCGGTGGAGCGGTCGGAACTGCAGGCCCTC
CTGCAGCGCCACCTGTGTCCTGAGCGCAGGCTGCGCGCAGCCCAAGAGATGGCGCGGAAG
TTGTCGGAGCTGCCTTACGACGGGAAGGCGCGGCTGGCTGGGGAGGGGCTCCCCGGCGCG
CCTCCAGGCCGGCCCGAGTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGACCTCTCT
GGCAAGAGCGAGCTTCCTCCTTCCCTTGCTCTCCACCCCTCTACTACTGCCCCTCTGTCC
CCAGAAGAGCCCAATGGGCCTCTGCCTGGCCACAAACAGCAGCCGGAAGCACCAGAGCCT
GCAGGTCAAAGACCCTCCATCTTCCAGTCCCTGCTTCACTGCTTGCTGGGCAGAGCTCGC
CCCACAAAGAAGAAAACAACCCAGGATTCCACAGATTTAGTGGATAACATGTCACCTGAA
GAGATTGAGGCCTGGGAGCAGGAGCAGCTGAGCCAGCCTGTCTGTTTTGATTCCTGCTGT
ATTGACCAGTCTCCCTTCCAGCTGGTGGAGCAGACAACCCTGCACAAGACTCATACCCTG
TTTTCACTCCTTGGCCTCCACCTCGCTTACGTGACCAGCATGGGGAAGCTCAGGGGCGTC
CTGGCCCTGGAGGAGCTACAGAAGGCCATTGAGGGGCACACCAAGTCTGGGGTGCAGCTC
CGCCCTCCCCTTGCCAGCTTCCGGAACACGACTTCAACTCGAAAGAGTACCGGGGCACCT
CCATCTTCTGCAGAGAACTGGAACCTGCCTGAGGACAGGCCTGGGGCCACTGGAACAGGG
GATGTGATTGCTGCCTCCCCAGAGACCCCTGTGCCATCTCCTTCCCCAGAGCCCCCTCTC
TCCCTGGCCCCAGGCAAGGTAGAGGGCGAGTTGGAGGAGCTGGAGCTGGTGGAGAGTCCA
GGGCTGGAAGAGGAGCTGGCCGACATCTTGCAGGGCCCCAGCCTGCGATCCACAGACGAG
GAGGATGAGGATGAACTGATCCTTTGA

1. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994 Feb 15;13(4):737-43.[8112288 ]
2. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.[12690205 ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
4. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ: The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800.[1379744 ]
5. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10.[7981750 ]
6. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet. 1994 Jun;3(6):941-6.[7951242 ]
7. Heine R, George AL Jr, Pika U, Deymeer F, Rudel R, Lehmann-Horn F: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet. 1994 Jul;3(7):1123-8.[7981681 ]
8. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet. 1994 Nov;3(11):2071-2.[7874130 ]
9. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet. 1995 Dec;57(6):1325-34.[8533761 ]
10. Lehmann-Horn F, Mailander V, Heine R, George AL: Myotonia levior is a chloride channel disorder. Hum Mol Genet. 1995 Aug;4(8):1397-402.[7581380 ]
11. Mailander V, Heine R, Deymeer F, Lehmann-Horn F: Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet. 1996 Feb;58(2):317-24.[8571958 ]
12. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet. 1998 Oct;7(11):1753-60.[9736777 ]
13. Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B: Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Hum Mutat. 1998;11(4):331.[10215406 ]
14. Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology. 1998 Apr;50(4):1176-9.[9566422 ]
15. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7.[16959974 ]