Table 1.
Description of known genes and their cellular functions and localization in oculocutaneous albinism.
Locus Name | Physical Location | Causative Gene | Cellular Location | Proposed Function | Reported Mutations | References |
---|---|---|---|---|---|---|
OCA1 | 11q14 | TYR | Melanosome | Malanogenesis | 487 | [42,49,50] |
OCA2 | 15q11 | OCA2 | Transmembrane of melanosome | Regulate and transport tyrosinase | 364 | [51] |
OCA3 | 9p23 | TYRP1 | Melanosome | Stabilize tyrosinase | 66 | [52,53,54] |
OCA4 | 5p13 | SLC45A2 | Transmembrane of melanosome | Maintain melanosomal pH and help in binding of copper to tyrosinase | 86 | [40,55] |
OCA5 | 4q24 | - | - | - | - | [22] |
OCA6 | 15q21 | SLC24A5 | Melanosome | Ion exchange in melanocytes | 37 | [22,45] |
OCA7 | 10q22 | C10orf11 | Melanocyte | Melanocyte Differentiation | 6 | [46] |
OCA8 | 13q31 | DCT | Melanocyte | Melanosome apoptosis | 4 | [47,48] |