Reviewed July 2006
What is the official name of the ACAD8 gene?
The official name of this gene is “acyl-Coenzyme A dehydrogenase family, member 8.”
ACAD8 is the gene's official symbol. The ACAD8 gene is also known by other names, listed below.
What is the normal function of the ACAD8 gene?
The ACAD8 gene provides instructions for making an enzyme called isobutyryl-coenzyme A (CoA) dehydrogenase. This enzyme is found in mitochondria, the energy-producing centers inside cells. Isobutyryl-CoA dehydrogenase plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for a step in the breakdown of valine, an amino acid that is a building block of many proteins. This step is a chemical reaction that converts a molecule called isobutyryl-CoA into another molecule called succinyl-CoA. Additional chemical reactions further break down succinyl-CoA to supply cells with energy.
How are changes in the ACAD8 gene related to health conditions?
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isobutyryl-coenzyme A dehydrogenase deficiency - caused by mutations in the ACAD8 gene
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At least four mutations in the ACAD8 gene that cause isobutyryl-CoA dehydrogenase deficiency have been identified. Some of these mutations disrupt the normal function of the enzyme, while other mutations prevent the gene from producing any functional enzyme. As a result of low enzyme levels, the body is unable to break down valine properly. An inability to process valine may lead to reduced energy production, poor growth and feeding, and other symptoms of isobutyryl-CoA dehydrogenase deficiency.
Where is the ACAD8 gene located?
Cytogenetic Location: 11q25
Molecular Location on chromosome 11: base pairs 133,628,616 to 133,640,958
The ACAD8 gene is located on the long (q) arm of chromosome 11 at position 25.
More precisely, the ACAD8 gene is located from base pair 133,628,616 to base pair 133,640,958 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACAD8?
You and your healthcare professional may find the following resources about ACAD8 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 ACAD8 gene or gene products?
- ACAD-8
- ACAD8_HUMAN
- Activator-recruited cofactor 42 kDa component
- acyl-coenzyme A dehydrogenase 8
- ARC42
- FLJ22590
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 ACAD8?
acids ;
amino acid ;
cell ;
CoA ;
coenzyme A ;
cofactor ;
deficiency ;
dehydrogenase ;
enzyme ;
gene ;
mitochondria ;
molecule ;
mutation ;
protein ;
symptom
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.