NP_000074.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
108,626 Da
NCBI Official Full Name
chloride channel protein 1
NCBI Official Synonym Full Names
chloride channel, voltage-sensitive 1
NCBI Official Synonym Symbols
NCBI Protein Information
chloride channel protein 1; clC-1; chloride channel 1, skeletal muscle; chloride channel protein, skeletal muscle
UniProt Protein Name
Chloride channel protein 1
UniProt Synonym Protein Names
Chloride channel protein, skeletal muscle
UniProt Synonym Gene Names
UniProt Entry Name
CLCN1_HUMAN
NCBI Summary for CLC1
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). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
UniProt Comments for CLC1
CLCN1: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Defects in CLCN1 are the cause of Thomsen disease (THD); also known as autosomal dominant myotonia congenita (MCD). THD is characterized by skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset and absence of muscle hypo- and hypertrophy. Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR); also known as Becker disease. Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.
Protein type: Channel, chloride; Transporter, ion channel; Membrane protein, multi-pass; Transporter; Membrane protein, integral
Chromosomal Location of Human Ortholog: 7q35
Cellular Component: integral to plasma membrane; plasma membrane; sarcolemma
Molecular Function: chloride channel activity; voltage-gated chloride channel activity
Biological Process: muscle contraction; transport; action potential propagation; transmembrane transport
Disease: Myotonia Congenita, Autosomal Recessive; Myotonia Congenita, Autosomal Dominant
Research Articles on CLC1
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Products associated with CLC1 elisa kit
Pathways associated with CLC1 elisa kit
Diseases associated with CLC1 elisa kit
Organs/Tissues associated with CLC1 elisa kit
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