CPT2 gene
The CPT2 gene encodes an enzyme vital for converting fats into energy within the heart and muscles, and mutations in this gene cause CPT II deficiency.
Overview
The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, a process that breaks down fats to convert them into energy. Fatty acids are a major source of energy for the heart and muscles, and for the liver during periods of fasting.
Within cells, fatty acid oxidation occurs in the mitochondria. Before entering, long-chain fatty acids must attach to a compound called carnitine. Once inside the mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and adds a substance called coenzyme A. Long-chain fatty acids must be joined to coenzyme A before they can be metabolized to produce energy.
Health Conditions Related to Genetic Changes
Carnitine palmitoyltransferase II deficiency
Variants in the CPT2 gene cause carnitine palmitoyltransferase II (CPT II) deficiency, a condition that prevents the body from using certain fats for energy. This can cause serious health problems, particularly during fasting.
- Variants that severely reduce enzyme activity cause more severe forms of the disorder (lethal neonatal form and severe infantile hepatocardiomuscular form).
- Variants that partially reduce enzyme activity usually cause the less severe myopathic form.
- The most common CPT2 variant replaces the amino acid serine with leucine at position 113 (Ser113Leu or S113L).
- Symptoms include muscle pain, muscle weakness, and low blood glucose (hypoglycemia).
- Low levels of ketones (hypoketosis) may occur because the body cannot properly break down fats.
- Long-chain acylcarnitines may build up in cells, damaging the liver, heart, and muscles.
Other Names for This Gene
- CPT II
- CPT2_HUMAN
- CPTASE
Genomic Location
The CPT2 gene is found on chromosome 1.