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Article

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

Biochimica et biophysica acta - 1 Mar 2013

Carmona-Rivera Carmelo, Simeonov Dimitre R, Cardillo Nicholas D, Gahl William A, Cadilla Carmen L

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism, a bleeding tendency, and sporadic pulmonary fibrosis, granulomatous colitis or infections. Nine HPS-causing genes have been identified in humans. HPS-1 is the most severe subtype with a prevalence of ~1/1800 in northwest Puerto Rico due to a founder mutation in the HPS1 gene. Mutations in HPS...

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Identifiers

PMID: 23103514
DOI: 10.1016/j.bbamcr.2012.10.019
PMCID: PMC3556189

Genes

HPS1
HPS4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).PMID 23103514Read ↗

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