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ATP6V0A2A 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.
ATP6V0A2 mutations cause cutis laxa type II and wrinkly skin syndrome.
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