Gene SLC24A4
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Also known as
Solute Carrier Family 24 Member 4, NCKX4Overview
SLC24A4 (Solute Carrier Family 24 Member 4) encodes a sodium-calcium-potassium exchanger (NCKX4) that belongs to the potassium-dependent sodium-calcium exchanger family. This transporter mediates the exchange of one calcium ion for three or four sodium ions and one potassium ion across cell membranes, playing a role in maintaining calcium homeostasis in various tissues. SLC24A4 is expressed in multiple tissues including skin melanocytes, teeth enamel-forming cells (ameloblasts), and the brain, where it helps regulate intracellular calcium concentrations that are critical for numerous cellular processes.Genetic variants in SLC24A4 have been strongly associated with several pigmentation-related traits and dental characteristics. Genome-wide association studies have identified SLC24A4 polymorphisms linked to blonde versus brown hair color, freckling susceptibility, and skin sensitivity to sun exposure, making it one of the key genes influencing human pigmentation diversity. Additionally, variants in this gene have been associated with tooth enamel thickness and cavity susceptibility. While the exact mechanisms connecting SLC24A4 to pigmentation are still being investigated, the transporter's role in calcium signaling may influence melanocyte function and melanin production. Understanding SLC24A4 genetic variation provides insights into individual differences in appearance traits and may have implications for assessing skin cancer risk based on pigmentation phenotypes.