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Article

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.

Pigment cell & melanoma research - 1 May 2026

Gillis Meredith F, Ames Madeleine R, Lundh Linnea, Gotea Valer, Elnitski Laura, Donovan Frank, Adeyemo Adebowale, Rotimi Charles, Brooks Brian, Zein Wadih, Gahl William, Oetting William S, Adams David R, Loftus Stacie K

Abstract excerpt

OCA2, a melanosome transmembrane spanning protein, functions to regulate melanosomal pH, optimizing production of melanin pigment. OCA2 is one of eight non-syndromic autosomal recessive oculocutaneous albinism (OCA) loci and is the second most common cause of OCA worldwide. Genome wide association studies (GWAS) have identified OCA2 coding and regulatory variants linked to common skin and eye color pigment...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41905947
DOI: 10.1111/pcmr.70085
PMCID: PMC13033472

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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