Gene SLC45A2
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Also known as
MATP, AIM1, OCA4, Membrane-Associated Transporter ProteinOverview
SLC45A2 (Solute Carrier Family 45 Member 2) encodes a membrane-associated transporter protein that plays a crucial role in melanin synthesis within melanocytes. The protein functions as a sugar transporter in melanosomes, the specialized organelles where melanin is produced and stored. SLC45A2 is essential for proper melanosome maturation and melanin pigmentation in skin, hair, and eyes. The gene's expression is tightly regulated and shows significant variation across human populations, contributing to normal variation in pigmentation phenotypes.Mutations in SLC45A2 cause oculocutaneous albinism type 4 (OCA4), an autosomal recessive disorder characterized by reduced melanin production leading to hypopigmentation of the skin, hair, and eyes. Individuals with OCA4 typically have light-colored skin that does not tan, blonde to light brown hair, and light-colored irises. Beyond albinism, genetic variants in SLC45A2 are among the strongest determinants of normal skin color variation in humans and have been extensively studied in population genetics and evolutionary biology. The gene shows evidence of positive selection in European and East Asian populations, where lighter skin pigmentation became advantageous for vitamin D synthesis at higher latitudes.