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V-type proton ATPase subunit B, brain isoform (ATP6V1B2)
- Target
- ATP6V1B2
- Molecular classification
- Enzyme, V-ATPase subunit, Non-catalytic subunit
01
Overview
V-type proton ATPase subunit B, brain isoform is a non-catalytic component of the vacuolar (H+)-ATPase (V-ATPase) complex, encoded by the *ATP6V1B2* gene. It is crucial for acidifying intracellular compartments like endosomes, lysosomes, and synaptic vesicles, and maintaining their pH. In some cell types, it can acidify the extracellular environment. While named 'brain isoform,' it exhibits ubiquitous expression. Mutations or dysfunctions have been linked to osteopetrosis, renal tubular acidosis, and neurodevelopmental disorders.
- Other names
- ATP6B2HO57VATBVPP3Vma2VATPASE H+ transporting v1 subunit b2DOODZLS2
02
Mechanism of action
Inhibition of V-ATPase activity (potential)
03
Biological functions
Organelle acidificationProtein sortingZymogen activationReceptor-mediated endocytosisSynaptic vesicle proton gradient generationExtracellular acidification (in some cells)
04
Disease associations
OsteopetrosisRenal tubular acidosisNeurodevelopmental disorders
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