ATP6V0A4 Antibody

Background:

This gene encodes a component of vacuolar ATPase(V-ATPase), a multisubunit enzyme that mediates acidification ofintracellular compartments of eukaryotic cells. V-ATPase dependentacidification is necessary for such intracellular processes asprotein sorting, zymogen activation, receptor-mediated endocytosis,and synaptic vesicle proton gradient generation. V-ATPase iscomposed of a cytosolic V1 domain and a transmembrane V0 domain.The V1 domain consists of three A and three B subunits, two Gsubunits plus the C, D, E, F, and H subunits. The V1 domaincontains the ATP catalytic site. The V0 domain consists of fivedifferent subunits: a, c, c', c'', and d. This gene is one of fourgenes in man and mouse that encode different isoforms of the asubunit. Alternatively spliced transcript variants encoding thesame protein have been described. Mutations in this gene areassociated with renal tubular acidosis associated with preservedhearing.