CLCN7, Official Symbol CLCN7provided by HGNC Official Full Name chloride voltage-gated channel 7provided by HGNC Primary source HGNC:HGNC:2025 See related Ensembl:ENSG00000103249 MIM:602727; AllianceGenome:HGNC:2025 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63 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, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 16.9), kidney (RPKM 15.1) and 25 other tissues See more Orthologs mouse all