ATP6V0A2


ATP6V0A2

A gene on chromosome 12q24.31 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation.
Molecular pathology
ATP6V0A2 mutations cause cutis laxa type II and wrinkly skin syndrome.