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ATP6V1C2 encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.
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Protein Aliases: ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2; V-ATPase C2 subunit; V-ATPase subunit C 2; V-type proton ATPase subunit C 2; Vacuolar proton pump subunit C 2
Gene Aliases: ATP6C2; ATP6V1C2; VMA5
UniProt ID: (Human) Q8NEY4
Entrez Gene ID: (Human) 245973
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