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XB-GENEPAGE-964300
???displayGene.symbol???:
atp6ap2
???displayGene.name???:
ATPase, H+ transporting, lysosomal accessory protein 2
???displayGene.synonyms???
(
Nomenclature history )
???displayGene.geneFunction???
ATPase membrane sector associated protein
AI Protein Function
:
The atp6ap2 gene encodes a transmembrane protein that functions as an associated subunit of the vacuolar-type h+-atpase (v-ATPase) complex, acting as a regulator of its proton-pumping activity. it is l...[+]
InterPro
:
???displayGene.geneInteractants???
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Diseases:
Disease Ontology:
syndromic X-linked intellectual disability Hedera type
MIM:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH
External Links:
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