OCA1

AcronymDefinition
OCA1Oculocutaneous Albinism Type 1
References in periodicals archive ?
There are four major forms: (i) OCA1 (mutated tyrosinase (TYR) gene); [12] (ii) OCA2 (mutated OCA2 gene); [13] (iii) OCA3 (mutated tyrosinase-related protein 1 (TYRP1) gene); [14] and (iv) OCA4 (mutated solute carrier family 45, member 2 (SLC45A2) gene).
OCA1 is an autosomal recessive disorder caused by TYR mutations.
Condition Name Gene Location Inheritance Oculocutaneous OCA1 TYR 11q14.