{"symbol":"TCIRG1","synonyms":["ATP6V0A3","OC-116KDA","OC116","OPTB1","ATP6I","TIRC7","ATP6N1C","a3"],"name":"T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3","description":"This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]","ncbiEntrezGeneId":10312,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10312","proteins":[{"symbol":"VPP3_HUMAN","href":"/api/1.0/protein/VPP3_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}