Gene CPT1

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Also known as

Carnitine palmitoyltransferase 1, CPT1A, CPT1B, CPT1C

Overview

CPT1 (Carnitine Palmitoyltransferase 1) is a family of genes encoding enzymes that play a crucial role in fatty acid metabolism and energy production. CPT1 enzymes catalyze the rate-limiting step in the transport of long-chain fatty acids into mitochondria for beta-oxidation. The enzyme attaches fatty acids to carnitine molecules, creating acyl-carnitine compounds that can cross the mitochondrial membrane. There are three main isoforms: CPT1A (liver), CPT1B (muscle and heart), and CPT1C (brain). This process is essential for energy production, particularly during fasting, prolonged exercise, or periods of high energy demand when the body relies on fat oxidation for fuel. CPT1 activity is inhibited by malonyl-CoA, linking fatty acid synthesis and oxidation pathways. Genetic variants in CPT1 genes can affect metabolic flexibility, the ability to utilize fats for energy, ketone production, and overall energy metabolism. CPT1 deficiency can lead to hypoketotic hypoglycemia and impaired fat oxidation, particularly during periods of metabolic stress.

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