Mutational Analysis of Oculocutaneous Albinism: A Compact Review

Table 2

Gene names, chromosome location, protein name, and predicted mutations of OCA1–4.

Disease types	Gene	Chromosome location	Protein	Predicted mutations
OCA1A	TYR	11q14.3	Tyrosinase	T373K, N371Y, M370T, P313R
OCA2	OCA2	15q11.2-q12	P protein/melanocyte-specific transporter protein	R305W
OCA3	TYRP1	9p23	Tyrosinase related protein-1	R326H, R356Q
OCA4	SLC45A2/MATP	5p13.3	Membrane-associated transporter protein	Y317C