XB-GENEPAGE-5931109
???displayGene.symbol???:
hps5
???displayGene.name???:
Hermansky-Pudlak syndrome 5
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(
Nomenclature history )
???displayGene.geneFunction???
WD40 repeat-containing protein
AI Protein Function
:
hps5 encodes a BLOC‑2 complex component that participates in the biogenesis of lysosome‑related organelles, particularly melanosomes; the protein is cytoplasmic and associates with endosomal membranes ...[+]
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Diseases:
Disease Ontology:
Hermansky-Pudlak syndrome 1
MIM:
HERMANSKY-PUDLAK SYNDROME 1; HPS1
External Links:
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