Reviewed February 2007
What is the official name of the ACADVL gene?
The official name of this gene is “acyl-coenzyme A dehydrogenase, very long chain.”
ACADVL is the gene's official symbol. The ACADVL gene is also known by other names, listed below.
What is the normal function of the ACADVL gene?
The ACADVL gene provides instructions for making an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase that is important for converting fats to energy. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. Fatty acid oxidation is particularly important during periods without food (fasting) or when energy demands are increased.
Very long-chain acyl-CoA dehydrogenase is required for the step in fatty acid oxidation that metabolizes a group of fats called very long-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, and they are also stored in the body's fat tissue.
Very long-chain acyl-CoA dehydrogenase functions within mitochondria, the energy-producing centers in cells. This enzyme is abundant in the heart and certain muscles, where it plays a key role in supplying energy. Significant levels of this enzyme are also found in liver mitochondria, and much smaller amounts are found in other tissues.
How are changes in the ACADVL gene related to health conditions?
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very long-chain acyl-coenzyme A dehydrogenase deficiency - caused by mutations in the ACADVL gene
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Researchers have identified more than 90 mutations in the ACADVL gene that cause very long-chain acyl-coenzyme A dehydrogenase deficiency. Many of these mutations delete one of the building blocks (amino acids) used to make very long-chain acyl-CoA dehydrogenase or improperly substitute one amino acid for another amino acid in the enzyme. These mutations alter the enzyme's structure, severely reducing or eliminating its activity. Other mutations delete part of the ACADVL gene or create a premature stop signal in the instructions for making very long-chain acyl-CoA dehydrogenase. As a result, very little functional enzyme is produced.
With a shortage (deficiency) of functional very long-chain acyl-CoA dehydrogenase, very-long chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to signs and symptoms of this disorder such as the lack of energy (lethargy) and low blood sugar (hypoglycemia). Very long-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the heart, liver, and muscles, causing serious complications.
Where is the ACADVL gene located?
Cytogenetic Location: 17p13-p11
Molecular Location on chromosome 17: base pairs 7,063,876 to 7,069,308
The ACADVL gene is located on the short (p) arm of chromosome 17 between positions 13 and 11.
More precisely, the ACADVL gene is located from base pair 7,063,876 to base pair 7,069,308 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACADVL?
You and your healthcare professional may find the following resources about ACADVL helpful.
- Educational resources - Information pages
- 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 ACADVL gene or gene products?
- ACAD6
- ACADV_HUMAN
- LCACD
- VLCAD
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 ACADVL?
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.