靶标:
ATP6V1H
产品别名:
CGI-11; MSTP042; NBP1; SFD; SFDalpha; SFDbeta; VMA13; ATP6V1H; ATPase H+ transporting V1 subunit H; ATPase H+ transporting V1 subunit H; V-type proton ATPase subunit H; ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H; V-ATPase 50/57 kDa subunits; V-ATPase subunit H; nef-binding protein 1; protein VMA13 homolog; vacuolar ATP synthase subunit H; vacuolar ATPase subunit H; vacuolar proton pump subunit H; vacuolar proton pump subunit SFD;
背景信息:
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. [provided by RefSeq, May 2012],