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ACADS

ACADS

Reviewed November 2009

What is the official name of the ACADS gene?

The official name of this gene is “acyl-CoA 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.

Read more about gene names and symbols on the About page.

What is the normal function of the ACADS gene?

The ACADS gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase (SCAD). This enzyme functions within mitochondria, the energy-producing centers within cells. SCAD is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them to energy.

SCAD is required to metabolize a group of fats called short-chain fatty acids. These fatty acids are found in some foods and are also produced when larger fatty acids are metabolized. Fatty acids are a major source of energy for the heart and muscles. During periods without food (fasting), fatty acids are also an important energy source for the liver and other tissues.

How are changes in the ACADS gene related to health conditions?

short-chain acyl-CoA dehydrogenase deficiency - caused by mutations in the ACADS gene

More than 40 mutations in the ACADS gene have been found to cause short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Almost all of these mutations change single protein building blocks (amino acids) in the SCAD enzyme. These mutations prevent the enzyme from properly metabolizing 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 each change one amino acid in the SCAD enzyme. Unlike other changes in the ACADS gene, these polymorphisms do not cause SCAD 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 environmental factors likely influence the risk of developing SCAD deficiency when a person carries either of these polymorphisms.

Where is the ACADS gene located?

Cytogenetic Location: 12q24.31

Molecular Location on chromosome 12: base pairs 120,725,767 to 120,740,007

The ACADS gene is located on the long (q) arm of chromosome 12 at position 24.31.

The ACADS gene is located on the long (q) arm of chromosome 12 at position 24.31.

More precisely, the ACADS gene is located from base pair 120,725,767 to base pair 120,740,007 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.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

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?

acids ; amino acid ; arginine ; CoA ; coenzyme A ; deficiency ; dehydrogenase ; enzyme ; fasting ; fatty acids ; gene ; glycine ; hypoglycemia ; hypotonia ; lethargy ; mitochondria ; muscle tone ; oxidation ; polymorphism ; precursor ; protein ; serine ; tryptophan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 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.

 
Reviewed: November 2009
Published: September 8, 2014