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Article

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

Nature genetics - 1 Sept 2003

Li Wei, Zhang Qing, Oiso Naoki, Novak Edward K, Gautam Rashi, O'Brien Edward P, Tinsley Caroline L, Blake Derek J, Spritz Richard A, Copeland Neal G, Jenkins Nancy A, Amato Dominick, Roe Bruce A, Starcevic Marta, Dell'Angelica Esteban C, Elliott Rosemary W, Mishra Vishnu, Kingsmore Stephen F, Paylor Richard E, Swank Richard T

Abstract excerpt

Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles, such as melanosomes and platelet dense granules. In mice...

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Identifiers

PMID: 12923531
DOI: 10.1038/ng1229
PMCID: PMC2860733

Genes

DTNBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12923531-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).PMID 12923531Read ↗

Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.Semantic proximity Read ↗

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

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).Semantic proximity Read ↗

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

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).Semantic proximity Read ↗

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

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

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

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

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 ↗

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