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Article

OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Journal of human genetics - 1 Jan 2007

Yuasa Isao, Umetsu Kazuo, Harihara Shinji, Miyoshi Aya, Saitou Naruya, Park Kyung Sook, Dashnyam Bumbein, Jin Feng, Lucotte Gérard, Chattopadhyay Prasanta K, Henke Lotte, Henke Jürgen

Abstract excerpt

Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the...

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Identifiers

PMID: 17568986
DOI: 10.1007/s10038-007-0167-9

Genes

OCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568986-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.PMID 17568986Read ↗

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