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Reviewed January 2008
What is the official name of the ACAT1 gene?
The official name of this gene is “acetyl-CoA acetyltransferase 1.”
ACAT1 is the gene's official symbol. The ACAT1 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 ACAT1 gene?
The ACAT1 gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, it helps process isoleucine, an amino acid that is a building block of many proteins. This enzyme is also involved in processing ketones, which are molecules that are produced when fats are broken down in the body.
During the breakdown of proteins, the ACAT1 enzyme is responsible for the last step in processing isoleucine. It converts a molecule called 2-methyl-acetoacetyl-CoA into two smaller molecules, propionyl-CoA and acetyl-CoA, that can be used to produce energy.
The ACAT1 enzyme carries out the last step in ketone breakdown (ketolysis) during the processing of fats. The enzyme converts a molecule called acetoacetyl-CoA into two molecules of acetyl-CoA, which can be used to produce energy. In the liver, the enzyme also carries out this chemical reaction in reverse, which is the first step in building new ketones (ketogenesis).
How are changes in the ACAT1 gene related to health conditions?
Where is the ACAT1 gene located?
Cytogenetic Location: 11q22.3
Molecular Location on chromosome 11: base pairs 108,121,530 to 108,148,167
The ACAT1 gene is located on the long (q) arm of chromosome 11 at position 22.3.
More precisely, the ACAT1 gene is located from base pair 108,121,530 to base pair 108,148,167 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACAT1?
You and your healthcare professional may find the following resources about ACAT1 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 ACAT1 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 ACAT1?
acids ; amino acid ; CoA ; coenzyme A ; deficiency ; dehydration ; enzyme ; gene ; isoleucine ; ketogenesis ; ketolysis ; ketone ; ketone body ; methyl ; mitochondria ; molecule ; nervous system ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.