Table 2.

Partial list of genes that regulate skin pigmentation.

Gene	Function	Mutant/polymorphism Phenotype
Melanocortin 1 Receptor (MC1R)	Generation of cAMP signal	Inability to tan, red hair, increased risk of melanoma
Agouti-Signaling Protein (ASIP)	MC1R Antagonist	Eumelanin synthesis favored over pheomelanin synthesis
Tyrosinase (TYR)	Melanin Synthesis (first and rate-limiting step)	Oculocutaneous Albinism Type 1
Solute Carrier Family 24 Member 5 (SLC24A5)	Endosomal ion transport	Light Skin, Oculocutaneous Albinism Type 6
Microphthalmia-associated transcription factor (MITF)	Melanoblast survival and development	Waardenburg Syndrome Type 2
Tyrosine-related protein-1 (TRP1)	Melanin Synthesis, Tyrosinase Stability	Oculocutaneous Albinism Type 3, Melanoma
Dopachrome tautomerase (TRP2)	Melanin Synthesis	Mild Oculocutaneous Albinism
KIT Ligand (KITLG)	Melanoblast survival and development	Piebaldism, Hyper/Hypopigmentation
Pre-Melanosome Protein (PMEL17)	Structural development of melanosomes	Unknown
P Protein (OCA2)	Melanosome development, Melanogenesis	Oculocutaneous Albinism Type 2
Paired-box gene 3 (PAX3)	Melanocyte survival and development	Waardenburg Syndrome Types 1/3, Melanoma
Guanine Nucleotide Binding Protein (GNAQ)	Encodes GPCR alpha subunit	Sturge-Weber Syndrome, Port-Wine Stains, Blue Nevi