{"symbol":"ATP6V0A4","synonyms":["ATP6N1B","RDRTA2","RTA1C","RTADR","ATP6N2"],"name":"ATPase, H+ transporting, lysosomal V0 subunit a4","description":"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\u0027, c\u0027\u0027, 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, Jul 2008]","ncbiEntrezGeneId":50617,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/50617","proteins":[{"symbol":"VPP4_HUMAN","href":"/api/1.0/protein/VPP4_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}