XB-GENEPAGE-990391
???displayGene.symbol???:
best1
???displayGene.name???:
bestrophin 1
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Nomenclature history )
???displayGene.geneFunction???
Bestrophin (Best vitelliform macular dystrophy-associated protein)
AI Protein Function
:
best1 encodes a calcium‑activated chloride channel that resides in the plasma membrane of epithelial cells; it mediates calcium‑dependent chloride efflux, contributing to cell volume regulation and ion...[+]
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Diseases:
Disease Ontology:
vitelliform macular dystrophy
MIM:
MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
External Links:
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