Ped

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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

PED

Abbreviation for performance-enhancing drug.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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