Table 1 The four known types of OCA
From: Oculocutaneous albinism
Gene | Gene product | Chr. localization | Size | Disease name | Prevalence |
|---|---|---|---|---|---|
TYR | Tyrosinase (TYR) | 11q14.3 | 65 kb (529aa) | OCA1 | 1:40,000 |
OCA1A | |||||
OCA1B (Yellow alb.) | |||||
OCA2 (p gene) | OCA2 | 15q11.2-q12 | 345 kb (838aa) | OCA2 (Brown OCA in Africans) | 1:36,000 (white Europeans) 1:3,900–10.000 (Africans) |
TYRP1 | Tyrosinase-related protein 1 (TYRP1) | 9p23 | 17 kb (536aa) | OCA3 (Rufous OCA) | Rare (white Europeans, Asians) 1:8,500 (Africans) |
MATP | Membrane-associated transporter protein (MATP) | 5p13.3 | 40 kb (530aa) | OCA4 | Rare (white Europeans) 1:85,000 (Japanese) |