Type of albinism | MIM # | Gene | Locus | Encoding function | Comments |
OCA1* | 606933 | TYR | 11q14-11q21 | Tyrosinase, which catalyzes several steps in melanogenesis | - OCA1A: No melanin
- OCA1B: Varying amounts of melanin are present
|
OCA1A | 203100 |
OCA1B | 606952 |
OCA2 | 203200 | OCA2 (previously called P gene) | 15q11.2-15q12 | Melanosomal membrane protein | - Common in sub-Saharan Africa due to 2.7 kb deletion
- Includes brown and rufous OCA
|
OCA3 | 203290 | TYRP1 | 9p23 | Stabilizes tyrosinase and regulates eumelanin production | - Previously called red or rufous OCA
- Common in Africa
|
OCA4 | 696574 | SLC45A2 (previously called MATP and AIM1) | 5p13.2 | Membrane transport protein | - Minimal to near normal melanin
- Phenotype similar to OCA2
- Common in Japan
|
OCA5 | 615312 | Unknown | 4q24 | Unknown | - Described in a Pakistani family
|
OCA6 | 609802 | SLC24A5 | 15q21.1 | Melanosome maturation | - Described in a Chinese family
|
OCA7 | 615179 | C10orf11 | 10q22.2-10q22.3 | Melanocyte differentiation | - Described in families on the Faroe Islands
|
OCA8 | Not available | DCT/TYRP2 | 13q32.1 | Enzyme catalyst in melanogenesis | - Described in a French girl and a North African woman
|