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Article

SLC45A2 variations in Indian oculocutaneous albinism patients.

Molecular vision - 10 Aug 2007

Sengupta Mainak, Chaki Moumita, Arti N, Ray Kunal

Abstract excerpt

PURPOSE: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of melanin biosynthesis that results in congenital hypopigmentation of ocular and cutaneous tissues. It is also associated with common developmental abnormalities of the eye. Mutations in the solute carrier family 45, member 2 gene (SLC45A2, also called MATP) cause oculocutaneous albinism type 4 (OCA4), which is the second most prevalent...

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Identifiers

PMID: 17768386

Genes

TYR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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