Entrez gene ID | | 10312 |
Official gene symbol | | TCIRG1 |
Full name | | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
Aliases | | ,ATP6N1C,ATP6V0A3,Atp6i,OC-116kDa,OC116,OPTB1,Stv1,TIRC7,Vph1,a3, |
Gene summary | | Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. 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. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q13.2 |
Gene position | | 67806483 - 67818366 Map Viewer |
Gene orientation | | plus |
Gene size | | 11884 bp |
Gene sequence |
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OMIM ID | | 604592 |
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