XB-GENEPAGE-960956
???displayGene.symbol???:
atp6v0a2
???displayGene.name???:
ATPase H+ transporting V0 subunit a2
???displayGene.synonyms???
atp60va2
(
Nomenclature history )
???displayGene.geneFunction???
proton pump integral membrane domain component
AI Protein Function
:
atp6v0a2 encodes a membrane‑bound V0 subunit a2 of the vacuolar‑type H⁺‑ATPase, mediates proton translocation to acidify lysosomal and endosomal compartments, supports vesicle trafficking and protein s...[+]
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Diseases:
Disease Ontology:
cutis laxa
MIM:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
External Links:
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