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HPS3 encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage.
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HPS3 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
Description of mutations in HPS (zeige HPS1 Proteine) genes that cause Hermansky-Pudlak syndrome (review)
HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
Component of BLOC-2 (zeige HPS6 Proteine). Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.
A specific subset of melanocyte proteins are aberrantly trafficked throughout the HPS-3 melanocyte and may be responsible for the reduction in melanin synthesis.
HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3.
mutational analysis in Ashkenazi Jews with Hermansky-Pudlak syndrome 3
HPS3 is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2 (zeige HPS6 Proteine))
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.
Hermansky-Pudlak syndrome 3 protein
, Hermansky-Pudlak syndrome 3
, Hermansky-Pudlak syndrome 3 homolog
, Hermansky-Pudlak syndrome 3 protein homolog
, cocoa protein