Gene Symbol | ATP6AP1 |
Entrez Gene ID | 537 |
Full Name | ATPase H+ transporting accessory protein 1 |
Synonyms | 16A,ATP6IP1,ATP6S1,Ac45,CF2,VATPS1,XAP-3,XAP3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency 47, 300972 (3) |