OCA2(redirected from eye color 3)
OCA2A 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.
Defects in OCA2 cause oculocutaneous albinism type 2, see there.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.