ATPase, H+ Transporting, Lysosomal V0 Subunit A2 (ATP6V0A2)

ATP6V0A2 is a subunit of the vacuolar ATPase, an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.The deduced protein has a hydrophobic N terminus and 3 potential N-glycosylation sites, and it has a calculated molecular mass of 98.0 kD. Northern blot analysis detected abundant expression in the T cell hybridoma cells and in mouse thymus, but not in thymoma, spleen, or liver.