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Chloride Channel Protein 1 (CLCN1)

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CLC1; Thomsen Disease,Autosomal Dominant; Chloride channel protein, skeletal muscle

Chloride Channel Protein 1 (CLCN1)
CCC G670
HGNC 2019
MGI 88417
PubMed 24349310
RGD 2360
UniProt P35523
Wiki CLCN1
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chloride Channel Protein 1 (CLCN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chloride Channel Protein 1 (CLCN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chloride Channel Protein 1 (CLCN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chloride Channel Protein 1 (CLCN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chloride Channel Protein 1 (CLCN1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chloride Channel Protein 1 (CLCN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chloride Channel Protein 1 (CLCN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chloride Channel Protein 1 (CLCN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chloride Channel Protein 1 (CLCN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chloride Channel Protein 1 (CLCN1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chloride Channel Protein 1 (CLCN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chloride Channel Protein 1 (CLCN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chloride Channel Protein 1 (CLCN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chloride Channel Protein 1 (CLCN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chloride Channel Protein 1 (CLCN1) ELISA Kit Customized Service Offer
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  9. "Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia."Am. J. Hum. Genet. 57:1325-1334(1995) [PubMed] [Europe PMC] [Abstract]
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  13. "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."Hum. Mutat. 11:331-331(1998) [PubMed] [Europe PMC] [Abstract]
  14. "Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance."Neurology 50:1176-1179(1998) [PubMed] [Europe PMC] [Abstract]
  15. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]