Cat. No.: GENE2191

ATP6V1B2

Description ATPase H+ Transporting V1 Subunit B2
Category Protein Coding
GIFtS 46
GC id GC08P020197
Score 5.25
Entrez Gene 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]
GeneCards Summary ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2) is a Protein Coding gene. Diseases associated with ATP6V1B2 include Deafness, Congenital, With Onychodystrophy, Autosomal Dominant and Zimmermann-Laband Syndrome 2. Among its related pathways are Signaling by GPCR and PI3K / Akt Signaling. Gene Ontology (GO) annotations related to this gene include proton transmembrane transporter activity and ATPase-coupled transmembrane transporter activity. An important paralog of this gene is ATP6V1B1.
Gene Database GeneCards: The Human Gene Database
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