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Article

Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.

PloS one - 1 Jan 2012

Rachel Rivka A, Nagashima Kunio, O'Sullivan T Norene, Frost Laura S, Stefano Frank P, Marigo Valeria, Boesze-Battaglia Kathleen

Abstract excerpt

Humans with Hermansky-Pudlak Syndrome (HPS) or ocular albinism (OA1) display abnormal aspects of organelle biogenesis. The multigenic disorder HPS displays broad defects in biogenesis of lysosome-related organelles including melanosomes, platelet dense granules, and lysosomes. A phenotype of ocul...

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Share to Adaptor Proteins, Vesicular Transport
Share to Albinism, Ocular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22984402
DOI: 10.1371/journal.pone.0042446
PMCID: PMC3439427

Genes

MREG
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22984402-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.PMID 22984402Read ↗

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

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Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation.Semantic proximity Read ↗

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