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ATP6V0A4

Official Full Name
ATPase, H+ transporting, lysosomal V0 subunit a4
Background
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.
Synonyms
ATP6V0A4; ATPase, H+ transporting, lysosomal V0 subunit a4; ATP6N1B, ATP6N2, ATPase, H+ transporting, lysosomal (vacuolar proton pump) non catalytic accessory protein 1B , ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 , ATPase, H+ transport; ATP6N1B, ATP6N2, ATPase, H+ transporting, lysosomal (vacuolar proton pump) non catalytic accessory protein 1B , ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 , ATPase, H+ transporting, lysosomal V0 subunit A4 , RTA1C; V-type proton ATPase 116 kDa subunit a isoform 4; a4; RDRTA2; RTADR; Stv1; Vph1; VPP2; V-ATPase 116 kDa; vacuolar proton pump, subunit 2; V-type proton ATPase 116 kDa subunit a; vacuolar proton pump 116 kDa accessory subunit; vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B; 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); RTA1C; ATP6N2; ATP6N1B; MGC130016; MGC130017

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