Disease name

Oculocutaneous or ocular albinism
 Oculocutaneous or ocular albinism

Marker gene

Gene symbol Chromosome location Protein name
TYR 11q14.3 Tyrosinase
OCA2 15q13.1 P protein
SLC45A2 5p13.3 Membrane-associated transporter protein
TYRP1 9p23 5,6-dihydroxyindole-2-carboxylic acid oxidase
MC1R 16q24.3 Melanocyte-stimulating hormone receptor

Summary

This term does not characterize a disease