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TCIRG1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3

Also known as: a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa


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]

Associated conditions

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Osteopetrosis autosomal recessive 1
MedGen: C1850127OMIM: 259700GeneReviews: Not available
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Genomic context

Chromosome: 11; NC_000011.10 (68038995..68053839)
Total number of exons:


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