CLCN7 Products

Description

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.

Bioinformatics

Entrez	1186 Human
Uniprot	NP_001278 Human
Product By Gene ID	1186
Alternate Names	chloride channel 7 Chloride channel protein 7 CLC-7 ClC-7 CLC7FLJ39644 FLJ26686 H(+)/Cl(-) exchange transporter 7 OPTA2FLJ46423 OPTB4