Gene SLC19A1
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Also known as
Solute Carrier Family 19 Member 1, RFC1, RFC, FOLT, IFC1, REFCOverview
SLC19A1 (Solute Carrier Family 19 Member 1), also known as the reduced folate carrier (RFC1), encodes a transmembrane protein that serves as the primary transporter for reduced folates and antifolate drugs across cell membranes. This carrier protein facilitates the uptake of 5-methyltetrahydrofolate, the predominant form of folate in plasma, into cells where it is essential for one-carbon metabolism, DNA synthesis, DNA repair, and methylation reactions. SLC19A1 is ubiquitously expressed and is particularly important in rapidly dividing cells that have high folate demands, including intestinal epithelial cells, hematopoietic cells, and developing fetal tissues.Genetic variants in SLC19A1 can affect folate transport efficiency and have been associated with several health outcomes. The most studied polymorphism, G80A (rs1051266), has been linked to altered folate status, plasma homocysteine levels, and potentially neural tube defect risk, though findings have been inconsistent across populations. SLC19A1 variants may also influence the efficacy and toxicity of antifolate chemotherapy drugs like methotrexate, which use this transporter to enter cells. Understanding individual SLC19A1 genetic variation may help personalize folate supplementation recommendations and optimize antifolate drug dosing in cancer treatment and autoimmune diseases.