Entrez gene ID | | 1186 |
Official gene symbol | | CLCN7 |
Full name | | chloride channel 7 |
Aliases | | ,CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4, |
Gene summary | | 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] |
Location | | Chromosome: 16 Locus: 16p13 |
Gene position | | 1525085 - 1494935 Map Viewer |
Gene orientation | | minus |
Gene size | | 30151 bp |
Gene sequence |
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OMIM ID | | 602727 |
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