V-type proton ATPase 116 kDa subunit a2 (ATP6V0A2)

V-type proton ATPase 116 kDa subunit a2 (ATP6V0A2) is a membrane protein and essential component of the V-ATPase complex found in intracellular vesicles and plasma membranes of specialized cells. This proton pump acidifies organelles such as lysosomes, endosomes, and the Golgi apparatus, regulating their pH, which is critical for processes such as protein degradation, vesicle trafficking, and glycosylation. ATP6V0A2, encoded by the ATP6V0A2 gene on chromosome 12q24, is integral to the V0 domain of V-ATPase and is indispensable for normal enzyme function. Mutations in ATP6V0A2 disrupt organellar acidification and glycosylation, leading to congenital disorders such as autosomal recessive cutis laxa type II and wrinkly skin syndrome, with symptoms including connective tissue defects, skin abnormalities, and impaired organ function. ATP6V0A2 also influences cellular iron metabolism and apoptotic pathways and is ubiquitously expressed in human tissues.

Other names

ATPase H+ transporting V0 subunit a2ATP6a2ATP6N1DTJ6TJ6MTJ6sJ6B7Vph1Stv1A2VRTFLysosomal H(+)-transporting ATPase V0 subunit a2Regeneration and tolerance factorVacuolar proton translocating ATPase 116 kDa subunit a isoform 2V-ATPase 116 kDa subunit a2ARCL2AARCLWSSInfantile malignant osteopetrosis

Mechanisms are inferred from V-ATPase inhibitors, which block proton transport and vesicle acidification, used experimentally or in research, but not specifically for ATP6V0A2 isoform.