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Article

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.

Pigment cell research - 1 Jun 2002

Toyofuku Kazutomo, Valencia Julio C, Kushimoto Tsuneto, Costin Gertrude-E, Virador Victoria M, Vieira Wilfred D, Ferrans Victor J, Hearing Vincent J

Abstract excerpt

Oculocutaneous albinism (OCA) is caused by reduced or deficient melanin pigmentation in the skin, hair, and eyes. OCA has different phenotypes resulting from mutations in distinct pigmentation genes involved in melanogenesis. OCA type 2 (OCA2), the most common form of OCA, is an autosomal recessive disorder caused by mutations in the P gene, the function(s) of which is controversial. In order to elucidate the...

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Source

Identifiers

PMID: 12028586
DOI: 10.1034/j.1600-0749.2002.02007.x

Genes

OCA2

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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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The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.PMID 12028586Read ↗

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