OCA2


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OCA2

A gene on chromosome 15q11.2-q12 that encodes a protein which may be involved in tyrosine transport within melanocyte and play a role in regulating the pH of melanosomes and melanosome maturation, as well as in post-translational processing of tyrosinase, which catalyses the limiting reaction in melanin synthesis. OCA2 may serve as a key control point at which skin colour variation is determined; it is a major determinant of brown and/or blue eye colour.

Molecular pathology
Defects in OCA2  cause oculocutaneous albinism type 2, see there.
References in periodicals archive ?
The OCA2 protein also participates in the localization of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) to the plasma membrane and thus involved in biogenesis of melanosomes.
The phenotypic consequences of OCA2 mutant individuals include varied amount of cutaneous pigment in hair and skin.
OCA2 results from mutations in the human homologue of the mouse pink-eyed dilution gene, OCA2 (formally known as the P gene).
20] In parts of Africa, including SA, about 80% of OCA2 chromosomes will carry the deletion, making it a useful diagnostic tool.