Details for: CLCN1
Associated with
Other Information
Genular Protein ID: 113988378
Symbol: CLCN1_HUMAN
Name: Chloride channel protein 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8112288
Title: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
PubMed ID: 8112288
PubMed ID: 12690205
Title: Human chromosome 7: DNA sequence and biology.
PubMed ID: 12690205
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 1379744
Title: The skeletal muscle chloride channel in dominant and recessive human myotonia.
PubMed ID: 1379744
PubMed ID: 7981750
Title: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
PubMed ID: 7981750
DOI: 10.1038/ng0493-305
PubMed ID: 9122265
Title: A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
PubMed ID: 9122265
PubMed ID: 12456816
Title: A novel alteration of muscle chloride channel gating in myotonia levior.
PubMed ID: 12456816
PubMed ID: 29809153
Title: Structure of the CLC-1 chloride channel from Homo sapiens.
PubMed ID: 29809153
DOI: 10.7554/elife.36629
PubMed ID: 7951242
Title: Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia.
PubMed ID: 7951242
DOI: 10.1093/hmg/3.6.941
PubMed ID: 7981681
Title: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
PubMed ID: 7981681
DOI: 10.1093/hmg/3.7.1123
PubMed ID: 7874130
Title: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
PubMed ID: 7874130
PubMed ID: 8533761
Title: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
PubMed ID: 8533761
PubMed ID: 7581380
PubMed ID: 8845168
Title: Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
PubMed ID: 8845168
PubMed ID: 8571958
Title: Novel muscle chloride channel mutations and their effects on heterozygous carriers.
PubMed ID: 8571958
PubMed ID: 9736777
Title: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
PubMed ID: 9736777
PubMed ID: 10215406
Title: 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.
PubMed ID: 10215406
DOI: 10.1002/(sici)1098-1004(1998)11:4<331::aid-humu12>3.0.co;2-3
PubMed ID: 9566422
Title: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
PubMed ID: 9566422
PubMed ID: 10644771
Title: Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
PubMed ID: 10644771
PubMed ID: 11113225
Title: A 'dystrophic' variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
PubMed ID: 11113225
PubMed ID: 12661046
Title: Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
PubMed ID: 12661046
DOI: 10.1002/mus.10347
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 19697366
Title: Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
PubMed ID: 19697366
DOI: 10.1002/mus.21525
PubMed ID: 22521272
Title: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
PubMed ID: 22521272
PubMed ID: 22641783
Title: Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
PubMed ID: 22641783
PubMed ID: 26096614
Title: ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
PubMed ID: 26096614
DOI: 10.1113/jp270358
PubMed ID: 26007199
Title: Clinical, molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita.
PubMed ID: 26007199
PubMed ID: 26502825
Title: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
PubMed ID: 26502825
DOI: 10.1038/srep15382
PubMed ID: 26510092
Title: Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients.
PubMed ID: 26510092
DOI: 10.1002/humu.22916
PubMed ID: 27653901
Title: A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
PubMed ID: 27653901
PubMed ID: 27666773
Title: Thomsen disease with ptosis and abnormal MR findings.
PubMed ID: 27666773
Sequence Information:
- Length: 988
- Mass: 108626
- Checksum: CA838BCD2AF3CA68
- Sequence:
MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA GPRHNVHPTQ IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ DCIHRLGQVV RRKLGEDGIF LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY AQMQPSLPLQ FLVWVTFPLV LILFSALFCH LISPQAVGSG IPEMKTILRG VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAAIGICCGL LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV IASFTFPPGM GQFMAGELMP REAISTLFDN NTWVKHAGDP ESLGQSAVWI HPRVNVVIII FLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG SVERSELQAL LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA PPGRPESFAF VDEDEDEDLS GKSELPPSLA LHPSTTAPLS PEEPNGPLPG HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR PTKKKTTQDS TDLVDNMSPE EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL FSLLGLHLAY VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE LEELELVESP GLEEELADIL QGPSLRSTDE EDEDELIL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.