ATPase H+ transporting V0 subunit a2 (ATP6V0A2)

ATPase H+ transporting V0 subunit a2 (ATP6V0A2) is a critical component of the vacuolar H+-ATPase (V-ATPase) complex, an evolutionary conserved proton pump responsible for the acidification of intracellular compartments. It is primarily localized to the Golgi apparatus and endosomes, where it maintains the acidic environment necessary for essential post-translational modifications, particularly N- and O-linked glycosylation, and efficient vesicular trafficking (Creative Biolabs, 2024; UniProt, 2024). Mutations in the ATP6V0A2 gene are the primary cause of Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome, which are characterized by skin inelasticity, skeletal abnormalities, and developmental delays due to impaired tropoelastin secretion and glycosylation defects (NIH, 2026; ResearchGate, 2026). In the context of oncology, ATP6V0A2 has been implicated in tumor-associated macrophage maturation and resistance to chemotherapeutic agents like cisplatin, suggesting its potential as a therapeutic target for modulation (NIH, 2026). Therapeutic strategies involving ATP6V0A2 mRNA include mRNA-based protein replacement therapy to restore function in genetic deficiency syndromes and RNA interference (RNAi) to downregulate its expression in cancer-related contexts (NIH, 2025; News-Medical, 2025).

Other names

V-type proton ATPase subunit a2Autosomal recessive cutis laxa type IIAARCL2AWrinkly skin syndromeWSSJ6S1STV1Regeneration and tolerance factorRTFV-type proton ATPase 116 kDa subunit a isoform 2

V-ATPase inhibition; mRNA-based protein replacement; RNA interference-mediated gene silencing