Gene Symbol | TCIRG1 |
Entrez Gene ID | 10312 |
Full Name | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
Synonyms | ATP6N1C,ATP6V0A3,Atp6i,OC-116kDa,OC116,OPTB1,Stv1,TIRC7,Vph1,a3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Osteopetrosis, autosomal recessive 1, 259700 (3) |