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Article

The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.

Pigment cell research - 1 Aug 2005

Schiaffino M Vittoria, Tacchetti Carlo

Abstract excerpt

Ocular albinism type 1 is an X-linked disorder characterized by severe reduction of visual acuity, retinal hypopigmentation, foveal hypoplasia, optic misrouting and the presence of giant melanosomes (macromelanosomes) in skin melanocytes and retinal pigment epithelium. The protein product of the OA1 gene is a pigment cell specific membrane glycoprotein, displaying structural and functional features of G...

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Share to Albinism, Ocular
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, G-Protein-Coupled

Share to Sequence Homology, Amino Acid

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Source

Identifiers

PMID: 16029416
DOI: 10.1111/j.1600-0749.2005.00240.x

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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