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Reviewed November 2010
What is the official name of the CPT1A gene?
The official name of this gene is “carnitine palmitoyltransferase 1A (liver).”
CPT1A is the gene's official symbol. The CPT1A gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CPT1A gene?
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.
How are changes in the CPT1A gene related to health conditions?
Where is the CPT1A gene located?
Cytogenetic Location: 11q13.2
Molecular Location on chromosome 11: base pairs 68,522,087 to 68,609,398
The CPT1A gene is located on the long (q) arm of chromosome 11 at position 13.2.
More precisely, the CPT1A gene is located from base pair 68,522,087 to base pair 68,609,398 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CPT1A?
You and your healthcare professional may find the following resources about CPT1A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CPT1A gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CPT1A?
acids ; acute ; ammonia ; carnitine ; cell ; deficiency ; enzyme ; fasting ; fatty acids ; fatty liver ; fetus ; gene ; hyperammonemia ; hypoglycemia ; liver failure ; maternal ; mitochondria ; mutation ; oxidation ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
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? in the Handbook.