acyl-CoA dehydrogenase family member 9
Senast uppdaterad 18 aug 2020
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Den ACAD9 gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing structures inside cells. The ACAD9 enzyme is critical in helping assemble a group of proteins known as complex I. Complex I is one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.
Normal function
Den ACAD9 gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing structures inside cells. The ACAD9 enzyme is critical in helping assemble a group of proteins known as complex I. Complex I is one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.
The ACAD9 enzyme also plays a role in fatty acid oxidation, a multistep process that occurs within mitochondria to break down (metabolize) fats and convert them into energy. The ACAD9 enzyme helps metabolize two fats called palmitate and oleate, which belong to a certain group of fats called long-chain fatty acids. 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.
Conditions referring to this gene or chromosome
Other names
acyl-CoA dehydrogenase family member 9, mitochondrial
acyl-Coenzyme A dehydrogenase family, member 9
MGC14452
NPD002
Related patient information and medicines
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Polycystisk njursjukdom
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Alkoholbrukssyndrom
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If you know that you have a family history of Huntington's disease, make sure that you mention that at the appointment. What causes Huntington's disease. Huntingtons sjukdom is caused by a defective gene that you inherit from your parents. Huntington's disease is an autosomal dominant condition, meaning you can inherit the disease from just one.
Vidare läsning och referenser
- acyl-CoA dehydrogenase family member 9; MedlinePlus, National Library of Medicine.
- Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S. Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. JAMA Neurol. 2013 Sep 1;70(9):1177-9. doi: 10.1001/jamaneurol.2013.3197.
- Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24.
- Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Apr 2017 | Ursprungligen publicerad
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