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Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.

Blood - 15 Nov 2004

Gwynn Babette, Martina Jose A, Bonifacino Juan S, Sviderskaya Elena V, Lamoreux M Lynn, Bennett Dorothy C, Moriyama Kengo, Huizing Marjan, Helip-Wooley Amanda, Gahl William A, Webb Lisa S, Lambert Amy J, Peters Luanne L

Abstract excerpt

Hermansky-Pudlak syndrome (HPS), a disorder of organelle biogenesis, affects lysosomes, melanosomes, and platelet dense bodies. Seven genes cause HPS in humans (HPS1-HPS7) and at least 15 nonallelic mutations cause HPS in mice. Where their function is known, the HPS proteins participate in protein trafficking and vesicle docking/fusion events during organelle biogenesis. HPS-associated genes participate in at...

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Source

Identifiers

PMID: 15265785
DOI: 10.1182/blood-2004-04-1538

Genes

HPS1
HPS3
HPS4
HPS5
HPS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.PMID 15265785Read ↗

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Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.Semantic proximity Read ↗

The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).Semantic proximity Read ↗

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The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).Semantic proximity Read ↗

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Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.Semantic proximity Read ↗

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Hermansky-Pudlak syndrome: models for intracellular vesicle formation.Semantic proximity Read ↗

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).Semantic proximity Read ↗

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