Aliases for CLCN7 Gene
External Ids for CLCN7 Gene
Previous GeneCards Identifiers for CLCN7 Gene
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]
GeneCards Summary for CLCN7 Gene
CLCN7 (Chloride Voltage-Gated Channel 7) is a Protein Coding gene. Diseases associated with CLCN7 include Osteopetrosis, Autosomal Dominant 2 and Osteopetrosis, Autosomal Recessive 4. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN6.
UniProtKB/Swiss-Prot Summary for CLCN7 Gene
Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).