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Palabra clave:'57-50-1'
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ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
Human ATP6V1H (51606), Mouse Atp6v1h (108664), Rat Atp6v1h (297797), naked mole-rat Atp6v1h (101710987), domestic guinea pig Atp6v1h (100716527), sheep ATP6V1H (101113504), Zebrafish atp6v1h (286779), chicken ATP6V1H (426199), cow ATP6V1H (282657), dog ATP6V1H (486953), domestic cat ATP6V1H (101095225)
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