释义 |
ATP6V1E1 ATP6V1E1 A gene on chromosome 22q11.21 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. |