Immunogen sequence: LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERS
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 96%.
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.
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Protein Aliases: Chloride channel 7 alpha subunit; Chloride channel protein 7; chloride channel, voltage-sensitive 7; ClC-7; CLCN-7; H(+)/Cl(-) exchange transporter 7; protein phosphatase 1, regulatory subunit 63
Gene Aliases: CLC-7; CLC7; CLCN7; OPTA2; OPTB4; PPP1R63
UniProt ID: (Human) P51798
Entrez Gene ID: (Human) 1186
Molecular Function: ion channel