Gene Symbol | ATP6V1B2 |
Entrez Gene ID | 526 |
Full Name | ATPase H+ transporting V1 subunit B2 |
Synonyms | ATP6B1B2,ATP6B2,DOOD,HO57,VATB,VPP3,Vma2,ZLS2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Zimmermann-Laband syndrome 2, 616455 (3); Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3) |