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Genetics Home Reference: your guide to understanding genetic conditions
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ACSF3

Reviewed January 2013

What is the official name of the ACSF3 gene?

The official name of this gene is “acyl-CoA synthetase family member 3.”

ACSF3 is the gene's official symbol. The ACSF3 gene is also known by other names, listed below.

What is the normal function of the ACSF3 gene?

The ACSF3 gene provides instructions for making an enzyme involved in the formation (synthesis) of fatty acids, which are building blocks used to make fats (lipids). The ACSF3 enzyme performs a chemical reaction that converts malonic acid to malonyl-CoA, which is the first step of fatty acid synthesis. Based on this activity, the enzyme is classified as a malonyl-CoA synthetase. The ACSF3 enzyme also converts methylmalonic acid to methylmalonyl-CoA, making it a methylmalonyl-CoA synthetase as well.

Fatty acid synthesis occurs through two pathways, one of which takes place in cellular structures called mitochondria. Mitochondria convert the energy from food into a form that cells can use, and fatty acid synthesis in these structures is thought to be important for their proper functioning. The ACSF3 enzyme is found only in mitochondria and is involved in mitochondrial fatty acid synthesis.

Does the ACSF3 gene share characteristics with other genes?

The ACSF3 gene belongs to a family of genes called ACS (acyl-CoA synthetase family).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ACSF3 gene related to health conditions?

combined malonic and methylmalonic aciduria - caused by mutations in the ACSF3 gene

About a dozen mutations in the ACSF3 gene have been found in people with combined malonic and methylmalonic aciduria (CMAMMA), a condition characterized by elevated levels of chemicals known as malonic acid and methylmalonic acid in the body. This condition can cause development and growth problems beginning in childhood or neurological problems beginning in adulthood.

Most ACSF3 gene mutations involved in CMAMMA change single protein building blocks (amino acids) in the ACSF3 enzyme. The altered enzyme likely has little or no function. Because the enzyme cannot convert malonic and methylmalonic acids, they build up in the body. Damage to organs and tissues caused by accumulation of malonic and methylmalonic acids may be responsible for the signs and symptoms of CMAMMA, although the mechanisms are unclear.

Where is the ACSF3 gene located?

Cytogenetic Location: 16q24.3

Molecular Location on chromosome 16: base pairs 89,093,808 to 89,155,845

The ACSF3 gene is located on the long (q) arm of chromosome 16 at position 24.3.

The ACSF3 gene is located on the long (q) arm of chromosome 16 at position 24.3.

More precisely, the ACSF3 gene is located from base pair 89,093,808 to base pair 89,155,845 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ACSF3?

You and your healthcare professional may find the following resources about ACSF3 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 ACSF3 gene or gene products?

  • ACSF3_HUMAN
  • acyl-CoA synthetase family member 3, mitochondrial
  • acyl-CoA synthetase family member 3, mitochondrial precursor

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ACSF3?

acids ; aciduria ; CoA ; enzyme ; fatty acids ; gene ; mitochondria ; neurological ; precursor ; protein ; synthesis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. (http://www.ncbi.nlm.nih.gov/pubmed/21785126?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/197322)
  • OMIM: ACYL-CoA SYNTHETASE FAMILY, MEMBER 3 (http://omim.org/entry/614245)
  • Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. (http://www.ncbi.nlm.nih.gov/pubmed/21841779?dopt=Abstract)
  • Watkins PA, Maiguel D, Jia Z, Pevsner J. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. J Lipid Res. 2007 Dec;48(12):2736-50. Epub 2007 Aug 30. (http://www.ncbi.nlm.nih.gov/pubmed/17762044?dopt=Abstract)
  • Witkowski A, Thweatt J, Smith S. Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis. J Biol Chem. 2011 Sep 30;286(39):33729-36. doi: 10.1074/jbc.M111.291591. Epub 2011 Aug 16. (http://www.ncbi.nlm.nih.gov/pubmed/21846720?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2013
Published: August 25, 2014