Mechanism | Disorder | Genes |
Melanoblast development and migration from neural crest | Piebaldism Waardenburg syndrome 1 to 4 | PAX3, SOX10, MITF, KIT, EDN3, EDNRB, SLUG (SNAI2), endothelin 1 and 3, E-cadherin, HGF, FGF |
Melanin synthesis in melanosome | Oculocutaneous albinism types 1 to 4 | TYR, OCA2, TYRP-1, SLC45A2, SLC24A5, C10orf11 |
Melanosome formation in melanocytes | Hermansky-Pudlak syndrome 1 to 7 Chediak-Higashi syndrome | HPS1-8, DTNBP1, BLOC1S3, CHS1/LYST |
Mature melanosome transport to the tips of the dendrites | Griscelli syndrome types 1 to 3 | MYO5A, RAB27A, MLPH |
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