ATP6V0A2

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

Function
V-ATPase 116 kDa isoform a2 is a subunit of the is_associated_with::vacuolar is_associated_with::ATPase (v-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(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.

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