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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CLCN7 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1186
Official gene symbolCLCN7
Full namechloride channel 7
Aliases,CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4,
Gene summaryThe 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]
LocationChromosome: 16   Locus: 16p13
Gene position1525085 - 1494935  Map Viewer
Gene orientationminus
Gene size30151 bp
Gene sequence
OMIM ID602727