Summary of CPT1A

CPT1A (carnitine palmitoyltransferase 1A) is the key enzyme in transporting components of fatty acids onto carnitine across the mitochondrial inner membrane. This is an essential step to having these fatty acids burned as energy.

The CPT1A gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. 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 cannot enter mitochondria unless they are attached to a substance known as carnitine. Carnitine palmitoyltransferase 1A connects carnitine to long-chain fatty acids so they can cross the inner membrane of mitochondria. Once these fatty acids are inside mitochondria, carnitine is removed and they can be metabolized to produce energy. During periods of fasting, long-chain fatty acids are an important energy source for the liver and other tissues.

Mutations in the CPT1A gene severely reduce or eliminate the activity of this enzyme. Without enough of this enzyme, carnitine is not attached to long-chain fatty acids and fatty acids (LC) cannot enter mitochondria and be converted into energy. Reduced energy production can lead to some of the features of CPT I deficiency, such as low blood sugar (hypoglycemia) and low levels of the products of fat breakdown (hypoketosis).

Carnitine palmitoyltransferase I deficiency can cause seizures or sudden death in infants (R), insulin resistance and type 2 diabetes (R). 

Fatty acids may also build up in cells and damage the liver, heart, and brain. This abnormal buildup causes the other signs and symptoms of the disorder. other disorders CPT1A gene mutations appear to increase the risk of a serious liver disorder that can develop in women during pregnancy. 


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Protein names

Recommended name:

Carnitine O-palmitoyltransferase 1, liver isoform

Short name:

CPT I

Alternative name(s):

CPT1-L
Carnitine O-palmitoyltransferase I, liver isoform
CPTI-L
Carnitine palmitoyltransferase 1A

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Top Gene-Substance Interactions

CPT1A Interacts with These Diseases

Substances That Increase CPT1A

Substances That Decrease CPT1A

Advanced Summary

Conditions with Increased Gene Activity

Conditions with Decreased Gene Activity

Technical