Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2006 Sep;28(9):1149-52.
doi: 10.1360/yc-006-1149.

[A new form of Oculocutaneous albinism, OCA4]

[Article in Chinese]
Affiliations
Review

[A new form of Oculocutaneous albinism, OCA4]

[Article in Chinese]
Hong-Yi Li et al. Yi Chuan. 2006 Sep.

Abstract

Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the mem-brane-associated transporter protein (MATP). MATP gene is located on chromosome 5p13.3 and is divided into 7 exons and 6 introns. MATP gene is transcriptionally modulated by MITF, and encodes a protein of 530 amino acids. There are at least 18 pathologic mutations and 8 non-pathologic polymorphisms have been found.

PubMed Disclaimer

MeSH terms

Substances