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. 2022 Jun 16;13(6):1072. doi: 10.3390/genes13061072

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]