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Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

Gene Name

ATP6V0A4

Gene Alias

A4, ATP6N1B, ATP6N2, MGC130016, MGC130017, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2

Gene Description

ATPase, H+ transporting, lysosomal V0 subunit a4

Omim ID

Gene Ontology

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

Other Designations

ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B|ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)|H(+)-transporting two-sector ATPase, noncatalytic accessory pro