Reviewed July 2006
What is the official name of the ACADS gene?
The official name of this gene is “acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain.”
ACADS is the gene's official symbol. The ACADS gene is also known by other names, listed below.
What is the normal function of the ACADS gene?
The ACADS gene provides instructions for making an enzyme called short-chain acyl-coenzyme A (CoA) dehydrogenase. This enzyme is important for breaking down a group of fats called short-chain fatty acids. These fatty acids are found in some foods and are also created when components of foods, such as fiber, are broken down by bacteria in the intestines. The short-chain acyl-CoA dehydrogenase enzyme is essential for converting these fatty acids into energy. This enzyme functions in mitochondria, the energy-producing centers within cells.
How are changes in the ACADS gene related to health conditions?
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short-chain acyl-coenzyme A dehydrogenase deficiency - caused by mutations in the ACADS gene
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Approximately 15 mutations that cause short-chain acyl-CoA dehydrogenase deficiency have been identified. Almost all of these mutations switch an amino acid building block in the ACADS enzyme. These genetic changes prevent the enzyme from properly breaking down and processing short-chain fatty acids. As a result, these fats are not converted into energy, which can lead to the characteristic signs and symptoms of this disorder, including lack of energy (lethargy), low blood sugar (hypoglycemia), poor muscle tone (hypotonia), and weakness.
Researchers have also identified two common variations (polymorphisms) in the ACADS gene that change a single amino acid in the enzyme. Unlike other alterations in the ACADS gene, these polymorphisms do not cause short-chain acyl-CoA dehydrogenase deficiency but may increase a person's risk of developing this disorder. One of these polymorphisms replaces the amino acid arginine with the amino acid tryptophan at protein position 147 (written as Arg147Trp or R147W). The other polymorphism switches the amino acid glycine with the amino acid serine at protein position 185 (written as Gly185Ser or G185S). Other genetic and lifestyle factors likely influence the risk of developing this condition when a person carries either of these polymorphisms.
Where is the ACADS gene located?
Cytogenetic Location: 12q22-qter
Molecular Location on chromosome 12: base pairs 119,648,049 to 119,662,192
The ACADS gene is located on the long (q) arm of chromosome 12 between position 22 and the end (terminus) of the arm.
More precisely, the ACADS gene is located from base pair 119,648,049 to base pair 119,662,192 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACADS?
You and your healthcare professional may find the following resources about ACADS helpful.
- Gene Tests - DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the ACADS gene or gene products?
- ACAD3
- ACADS_HUMAN
- acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain precursor
- Butyryl-CoA dehydrogenase
- Butyryl dehydrogenase
- SCAD
- Unsaturated acyl-CoA reductase
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 ACADS?
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.