CPT2

The CPT2 gene provides instructions for making a liver enzyme called carnitine palmitoyl transferase II. This enzyme helps release long-chain fatty acids from a particular transport enzyme. This chemical reaction occurs in the interior compartment of mitochondria, the energy-producing centers in cells. Long-chain fatty acids must then be joined to a naturally occurring substance called coenzyme A in order to produce energy. The carnitine palmitoyltransferase II enzyme facilitates the reaction that joins coenzyme A to long-chain fatty acids.

carnitine palmitoyltransferase II deficiency - caused by mutations in the CPT2 gene

More than 40 mutations have been identified in people with carnitine palmitoyltransferase II deficiency. The most common causative mutation is the substitution of the amino acid (a building block of proteins) serine with the amino acid leucine at position 113 (written as Ser113Leu) in the enzyme. Most of the identified mutations are thought to cause the enzyme to be abnormally sensitive to substances that regulate its activity. The improperly regulated enzyme becomes less active and prevents cells from using certain fats for energy, which leads to the characteristic signs and symptoms of this disorder.