Gene |
Function |
General Structure |
Pigmentation Disorder |
| KITLG (stem cell factor/ kit ligand) |
Transmits survival and differentiation signals to melanocytes |
Membrane tyrosine kinase |
Piebaldism |
| MC1R (melanocortin 1 receptor) |
Binds to melanocyte stimulating hormone and generates cAMP signal |
7 transmembrane Gs-coupled receptor |
Red hair, freckling, defective tanning |
| MITF (microphthalmia) |
Myc-like master transcription factor essential for melanocyte differentiation and survival |
basic-helix-loop-helix-leucine-zipper transcription factor |
Waardenburg syndrome type 2 |
| OA1 receptor |
Maintenance of melanosome size |
G-protein-coupled receptor |
Ocular albinism (OA) |
| P/OCA2 |
Melanosome acidification |
12-transmembrane domain-containing protein |
Oculocutaneous albinism type 2 (OCA2) |
| Pmel17 (gp100; ME20) |
Striation formation; melanin polymerization |
Type 1 transmembrane protein |
Unknown |
| SLC24A5 (solute carrier family 24 member 5) |
Melanosomal cation exchange |
Membrane transporter |
Fair skin |
| TRP1 (tyrosinase-related protein-1) |
Melanin biosynthesis; tyrosinase stabilization |
Type 1 transmembrane protein |
Oculocutaneous albinism type 3 (OCA3) |
| TRP2 (dopachrome tautomerase) |
Melanin biosynthetic enzyme |
Type 1 transmembrane protein |
Unknown |
| TYR (tyrosinase) |
Rate-limiting enzyme in melanin biosynthesis |
Type I transmembrane protein |
Oculocutaneous albinism type 1 (OCA1) |
