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Article

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

BMC cell biology - 13 Sept 2005

Helip-Wooley Amanda, Westbroek Wendy, Dorward Heidi, Mommaas Mieke, Boissy Raymond E, Gahl William A, Huizing Marjan

Abstract excerpt

BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings reflect defects in the formation of melanosomes in melanocytes and dense bodies in platelets. HPS type-3 (HPS-3) results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains...

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Identifiers

PMID: 16159387
DOI: 10.1186/1471-2121-6-33
PMCID: PMC1249560

Genes

HPS3

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.PMID 16159387Read ↗

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

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity Read ↗

BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.Semantic proximity Read ↗

A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Semantic proximity Read ↗

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9Semantic proximity Read ↗

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.Semantic proximity Read ↗

Hermansky-Pudlak syndrome and related disorders of organelle formation.Semantic proximity Read ↗

Hypopigmentation in Hermansky-Pudlak syndrome.Semantic proximity Read ↗

Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.Semantic proximity Read ↗

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)Semantic proximity Read ↗

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

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