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 ?
Recommendation Boca Juniors-Boca Juniors double result 1pt 13-10 Betfred
River's president Daniel Angelici added: "Though the pain and sadness have not yet gone, we understand that the best thing for Boca is change, to start the year with a new coach."
Boca Juniors remained on six titles and missed a chance to tie Argentina's Independiente as the competition's most successful club.
River, whose coach Marcelo Gallardo was banned from the sidelines, were given a huge advantage when Boca's Colombian midfielder Wilmar Barrios was sent off in the third minute of extra-time and seized it thanks to a sizzling strike from his compatriot Juan Fernando Quintero in the 109th minute.
Lucas Pratto levelled and when Boca's Wilmar Barrios was sent off early in extratime, Juan Quintero and Gonzalo Martinez sealed a 5-3 aggregate win.
Boca's Wilmar Barrios was sent off a minute into extra time for a rash tackle and their misery was compounded in the 109th minute when a sublime goal from Juan Fernando Quintero gave River the lead.
CONMEBOL, South American football's governing body, had earlier twice rejected Boca's call for River Plate to be disqualified from the tournament, following the attack on Boca's bus outside El Monumental that led to the postponement of the original clash last month.
Reports suggested police fired tear gas at River fans, who were throwing rocks at the Boca bus, and the gas got into the vehicle.
Soccer Football - Copa Libertadores Final - First Leg - Boca Juniors v River Plate - Alberto J.