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Article

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

The Journal of investigative dermatology - 1 Jul 2013

Wei Ai-Hua, Zang Dong-Jie, Zhang Zhe, Liu Xuan-Zhu, He Xin, Yang Lin, Wang Yi, Zhou Zhi-Yong, Zhang Ming-Rong, Dai Lan-Lan, Yang Xiu-Min, Li Wei

Abstract excerpt

Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder with hypopigmentation in the eye, hair, and skin color. Four genes, TYR, OCA2, TYRP1, and SLC45A2, have been identified as causative genes for nonsyndromic OCA1-4, respectively. The genetic identity of OCA5 locus on...

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Source

Identifiers

PMID: 23364476
DOI: 10.1038/jid.2013.49

Genes

OCA2
TYR
TYRP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23364476-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.PMID 23364476Read ↗

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Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.Semantic proximity Read ↗

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