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Article

[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].

Yi chuan = Hereditas - 1 Nov 2005

Duan Hong-Lei, Zheng Hui, Li Hong-Yi

Abstract excerpt

Oculocutaneous albinism typeII(OCA2), the most common type of albinism, is an autosomal recessive disorder. It is caused by mutations in the P gene, which is located on chromosome 15q11.1-q12 and divided into 24 exons and 23 introns. P gene codes for 838-amino-acid integral membrane protein with 12 putative transmembrane domains, but the exact function is not clear yet. There are at least 60 pathologic mutations...

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Share to Albinism, Oculocutaneous
Share to Chromosomes, Human, Pair 15
Share to OCA2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TYR gene

Share to Membrane Transport Proteins

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Share to Polymorphism, Genetic

Source

Identifiers

PMID: 16378950

Genes

OCA2
TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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