Entrez gene ID | | 50617 |
Official gene symbol | | ATP6V0A4 |
Full name | | ATPase, H+ transporting, lysosomal V0 subunit a4 |
Aliases | | ,A4,ATP6N1B,ATP6N2,MGC130016,MGC130017,RDRTA2,RTA1C,RTADR,STV1,VPH1,VPP2, |
Gene summary | | This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7q33-q34 |
Gene position | | 138482941 - 138391039 Map Viewer |
Gene orientation | | minus |
Gene size | | 91903 bp |
Gene sequence |
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OMIM ID | | 605239 |
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