XB-GENEPAGE-941730
???displayGene.symbol???:
atp6v1b2
???displayGene.name???:
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
???displayGene.synonyms???
LOC108711609
(
Nomenclature history )
???displayGene.geneFunction???
Vacuolar H+-ATPase V1 sector, subunit B
AI Protein Function
:
Atp6v1b2 encodes the B2 subunit of the vacuolar‑type H⁺‑ATPase, a membrane‑bound enzyme that hydrolyzes ATP to pump protons into intracellular compartments, acidifying endosomes, lysosomes and secretor...[+]
InterPro
:
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Diseases:
Disease Ontology:
autosomal dominant congenital deafness with onychodystrophy
MIM:
DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD
External Links:
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