AAI09197.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 89kDa
NCBI Official Full Name
CLCN7 protein, partial
NCBI Official Synonym Full Names
chloride voltage-gated channel 7
NCBI Official Synonym Symbols
CLC7; CLC-7; OPTA2; OPTB4; PPP1R63 [Similar Products]
NCBI Protein Information
H(+)/Cl(-) exchange transporter 7
UniProt Protein Name
H(+)/Cl(-) exchange transporter 7
UniProt Synonym Protein Names
Chloride channel 7 alpha subunit; Chloride channel protein 7; ClC-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; Transporter, ion channel; Channel, chloride; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 16p13
Cellular Component: cytoplasmic vesicle; integral to membrane; lysosomal membrane; membrane
Molecular Function: antiporter activity; ATP binding; chloride channel activity; voltage-gated chloride channel activity
Biological Process: response to pH; transmembrane transport; transport
Disease: Osteopetrosis, Autosomal Recessive 4; Osteopetrosis, Autosomal Dominant 2
Research Articles on CLCN7
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Products associated with anti-CLCN7 antibody
Pathways associated with anti-CLCN7 antibody
Diseases associated with anti-CLCN7 antibody
Organs/Tissues associated with anti-CLCN7 antibody
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