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This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
0710001F19Rik; Atp6v1h; ATPase H+ transporting V1 subunit H; ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; ATPase, H+ transporting, lysosomal V1 subunit H; AU022349; CGI-11; MSTP042; NBP1; Nef-binding protein 1; protein VMA13 homolog; SFD; SFDalpha; SFDbeta; vacuolar ATP synthase subunit H; vacuolar ATPase subunit H; vacuolar proton pump H subunit; vacuolar proton pump subunit H; Vacuolar proton pump subunit SFD; V-ATPase 50/57 kDa subunits; V-ATPase H subunit; V-ATPase subunit H; VMA13; V-type proton ATPase subunit H
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