Table 1.
Mutations detected for albinism associated genes.
| Albinism | Gene | Chromosome location | Mutations |
|---|---|---|---|
| OCA1 | TYR | 11q14-q21 | 303 |
| OCA2 | OCA2 | 15q11.2-q12 | 154 |
| OCA3 | TYRP1 | 9p23 | 16 |
| OCA4 | SLC45A2 | 5p13.3 | 78 |
| OCA5 | ND | 4q24 | 1 |
| OCA6 | SLC24A5 | 15q21.1 | 2 |
| OCA7 | C10ORF11 | 10q22.2-q22.3 | 1 |
| OA1 | GPR143 | Xp22.3 | 114 |
| LYST | CHS1 | 1q42.1-q42.2 | 53 |
| HPS1 | HPS1 | 10q23.1-q23.3 | 31 |
| AP3B1 | HPS2 | 5q14.1 | 20 |
| HPS3 | HPS3 | 3q24 | 7 |
| HPS4 | HPS4 | 22cen-q12.3 | 13 |
| HPS5 | HPS5 | 11p14 | 11 |
| HPS6 | HPS6 | 10q24.32 | 9 |
| HPS7 | DTNBP1 | 6p22.3 | 2 |
| HPS8 | BLOC1S3 | 19q13.32 | 2 |
| HPS9 | BLOC1S6 | 15q21.1 | 1 |
Source: human gene mutation database, 05 Dec, 2013; ND: not determined.