Gene SLC24A5
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Also known as
Solute Carrier Family 24 Member 5, NCKX5, OCA6Overview
SLC24A5 (Solute Carrier Family 24 Member 5) encodes a sodium-calcium-potassium exchanger (NCKX5) that plays a critical role in melanin synthesis within melanosomes, the specialized organelles where melanin pigment is produced. This transporter helps maintain the appropriate ionic environment, particularly calcium homeostasis, necessary for the enzymatic processes of melanin production. SLC24A5 is primarily expressed in melanocytes, the pigment-producing cells of the skin, hair, and eyes, and is localized to the melanosome membrane where it influences the quantity and quality of melanin produced.SLC24A5 is one of the most important genes determining human skin pigmentation variation. The most studied variant, A111T (rs1426654), has been under strong positive selection in European populations and is nearly fixed in individuals of European ancestry. This single nucleotide polymorphism is estimated to account for approximately 25-38% of the skin color difference between Europeans and Africans, making it one of the largest-effect common variants for a complex human trait. The derived allele associated with lighter skin reduces the efficiency of melanosome maturation and melanin production. Variants in SLC24A5 have also been associated with oculocutaneous albinism type 6 in rare cases. Understanding SLC24A5 genetic variation is important for predicting pigmentation phenotypes, assessing skin cancer risk based on pigmentation, and forensic DNA phenotyping applications.