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Article

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Human mutation - 1 Mar 2005

Oetting William S, Garrett Sarah Savage, Brott Marcia, King Richard A

Abstract excerpt

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently unknown but is...

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Source

Identifiers

PMID: 15712365
DOI: 10.1002/humu.9318

Genes

OCA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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