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Summary Expression Phenotypes Gene Literature (2) GO Terms (16) Nucleotides (115) Proteins (50) Interactants (261) Wiki
XB-GENEPAGE-5931109
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 hps5

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Hermansky-Pudlak syndrome 5

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( Nomenclature history )

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WD40 repeat-containing protein

AI Protein Function :
The hps5 gene encodes a cytoplasmic protein that is a component of the biogenesis of lysosome-related organelles complex 2 (BLOC-2). This protein functions in the maturation and trafficking of melanoso...[+]


InterPro :
HPS5, WD40 repeat dom sf, WD40/YVTN repeat-like dom sf

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Diseases: 


Disease Ontology:
Hermansky-Pudlak syndrome 1 [+]

MIM:
HERMANSKY-PUDLAK SYNDROME 1; HPS1 [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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