|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “carnitine palmitoyltransferase 2.”
CPT2 is the gene's official symbol. The CPT2 gene is also known by other names, listed below.
The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside 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. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
More than 70 mutations in the CPT2 gene have been found to cause carnitine palmitoyltransferase II (CPT II) deficiency. These mutations lead to reduced activity of carnitine palmitoyltransferase 2. Mutations that lead to extremely reduced enzyme activity typically cause the more severe forms of CPT II deficiency (a lethal neonatal form and a severe infantile hepatocardiomuscular form), while those that result in partially reduced enzyme activity usually lead to a less severe myopathic form of the disorder. The most common CPT2 gene mutation replaces the protein building block (amino acid) serine with the amino acid leucine at position 113 (written as Ser113Leu or S113L) in the enzyme. This mutation accounts for about 60 percent of the mutations that cause the myopathic form of CPT II deficiency.
Without enough functioning carnitine palmitoyltransferase 2, long-chain fatty acids are not properly processed after they enter mitochondria and cannot be metabolized to produce energy. Reduced energy production can lead to some of the features of CPT II deficiency, such as muscle pain and weakness, low blood sugar (hypoglycemia), and low levels of the products of fat breakdown (hypoketosis). Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.
Cytogenetic Location: 1p32
Molecular Location on chromosome 1: base pairs 53,662,100 to 53,679,868
The CPT2 gene is located on the short (p) arm of chromosome 1 at position 32.
More precisely, the CPT2 gene is located from base pair 53,662,100 to base pair 53,679,868 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CPT2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; carnitine ; coenzyme A ; deficiency ; enzyme ; fasting ; fatty acids ; gene ; hypoglycemia ; leucine ; mitochondria ; mutation ; neonatal ; oxidation ; protein ; serine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.