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Reviewed December 2013
What is the official name of the AMACR gene?
The official name of this gene is “alpha-methylacyl-CoA racemase.”
AMACR is the gene's official symbol. The AMACR 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 AMACR gene?
The AMACR gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). This enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system.
In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid.
How are changes in the AMACR gene related to health conditions?
Where is the AMACR gene located?
Cytogenetic Location: 5p13
Molecular Location on chromosome 5: base pairs 33,986,985 to 34,008,114
The AMACR gene is located on the short (p) arm of chromosome 5 at position 13.
More precisely, the AMACR gene is located from base pair 33,986,985 to base pair 34,008,114 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AMACR?
You and your healthcare professional may find the following resources about AMACR 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 AMACR 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 AMACR?
acids ; amino acid ; bile ; breakdown ; cell ; cirrhosis ; CoA ; congenital ; deficiency ; digestion ; digestive ; enzyme ; fatty acids ; gene ; mitochondria ; mutation ; nervous system ; neurological ; neuropathy ; peroxisomes ; proline ; protein ; serine ; synthesis ; 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.