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.
It is generally believe that OCA2 is more prevalent in Pakistani population than OCA1 in contrast to the Indian population.
OCA2 is particularly common, with a few mutations accounting for most cases, suggesting a shared genetic history.
OCA2 is the most common form of albinism worldwide due to its high prevalence in southern Africa, where it occurs in 1/3 900 blacks.
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.