Gene SLC22A4
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Also known as
Solute Carrier Family 22 Member 4, OCTN1, ETTOverview
SLC22A4 (Solute Carrier Family 22 Member 4) encodes the organic cation/carnitine transporter 1 (OCTN1), a sodium-dependent transporter that mediates the uptake of L-carnitine and various organic cations including certain drugs and toxins. OCTN1 is expressed in various tissues including kidney, skeletal muscle, heart, and intestine, where it plays a role in carnitine homeostasis and the elimination of organic cations. Carnitine is essential for fatty acid metabolism, as it transports long-chain fatty acids into mitochondria for beta-oxidation, making this transporter important for energy metabolism.Genetic variants in SLC22A4 have been associated with inflammatory bowel disease (IBD), particularly Crohn's disease, though the associations have shown variable replication across populations. The most studied variant, 1672C>T (rs1050152), may affect carnitine transport efficiency and has been linked to altered carnitine levels in some studies. Beyond IBD susceptibility, SLC22A4 variants may influence the pharmacokinetics of drugs that are OCTN1 substrates, potentially affecting drug efficacy and toxicity. Understanding SLC22A4 genetic variation could provide insights into individual differences in carnitine metabolism, inflammatory disease risk, and drug response, potentially guiding personalized approaches to carnitine supplementation and medication management.