ATP6V0A2


V-type proton ATPase 116 kDa subunit a isoform 2 also known as V-ATPase 116 kDa isoform a2 is an enzyme that in humans is encoded by the ATP6V0A2 gene.

Function

V-ATPase 116 kDa isoform a2 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 consists of a membrane peripheral V domain for ATP hydrolysis, and an integral membrane V domain for proton translocation. The subunit encoded by this gene is a component of the V domain.

Clinical significance

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.