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The four known types of OCA |
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| Gene |
Gene product |
Chr. localization |
Size |
Disease name |
Prevalence |
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| TYR |
Tyrosinase (TYR) |
11q14.3 |
65 kb (529aa) |
OCA1 |
1:40,000 |
| OCA1A |
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| OCA1B (Yellow alb.) |
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| 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) |
Grønskov et al. Orphanet Journal of Rare Diseases 2007 2:43 doi:10.1186/1750-1172-2-43 |
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