NP_001107803.1
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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
88,679 Da
NCBI Official Full Name
H(+)/Cl(-) exchange transporter 7 isoform a
NCBI Official Synonym Full Names
chloride channel, voltage-sensitive 7
NCBI Official Synonym Symbols
CLC7; CLC-7; OPTA2; OPTB4; PPP1R63 [Similar Products]
NCBI Protein Information
H(+)/Cl(-) exchange transporter 7; H(+)/Cl(-) exchange transporter 7; chloride channel protein 7; chloride channel 7 alpha subunit; protein phosphatase 1, regulatory subunit 63
UniProt Protein Name
H(+)/Cl(-) exchange transporter 7
UniProt Synonym Protein Names
Chloride channel 7 alpha subunit; Chloride channel protein 7
UniProt Synonym Gene Names
UniProt Entry Name
CLCN7_HUMAN
NCBI Summary for CLCN7
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
UniProt Comments for CLCN7
CLCN7: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. Defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4 (OPTB4); also known as infantile malignant osteopetrosis type 2. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Defects in CLCN7 are the cause of osteopetrosis autosomal dominant type 2 (OPTA2); also known as autosomal dominant Albers-Schonberg disease or marble disease autosomal dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
Protein type: Transporter, ion channel; Channel, chloride; Transporter; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 16p13
Cellular Component: membrane; lysosomal membrane; integral to membrane; cytoplasmic vesicle
Molecular Function: chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity
Biological Process: transport; transmembrane transport; response to pH
Disease: Osteopetrosis, Autosomal Dominant 2; Osteopetrosis, Autosomal Recessive 4
Research Articles on CLCN7
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Diseases associated with CLCN7 elisa kit
Organs/Tissues associated with CLCN7 elisa kit
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