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ATP6V0A4
ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V0A4 is 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.
| Gene Name: | ATPase, H+ transporting, lysosomal V0 subunit a4 |
| Family/Subfamily: | Transporter , ATPase - V type |
| Synonyms: | ATP6V0A4, ATP6N1B, Renal tubular acidosis, RTA1C, STV1, V-ATPase 116 kDa, V-ATPase alpha 4, RTADR, ATP6N2, RDRTA2, V-ATPase 116 kDa isoform a4, VPH1, VPP2 |
| Target Sequences: | NM_130841 NP_570856.2 Q9HBG4 |
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