acyl-CoA dehydrogenase family member 9
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L 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
L 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
Altri nomi
acyl-CoA dehydrogenase family member 9, mitochondrial
acyl-Coenzyme A dehydrogenase family, member 9
MGC14452
NPD002
Related patient information and medicines
Patient information leaflet
Test del sangue del neonato
If ... Medium-chain acyl-Co-A dehydrogenase deficiency (MCADD)- this is a very rare, but potentially life-threatening, inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with this condition develop normally, but recognising the condition early enables parents to make sure their babies and children with this.
Patient information leaflet
Tumore di Wilms
A Wilms' tumour è a type of kidney cancer that usually affects young children. Wilms' tumours can appear in older children and adults but this is very rare. A Wilms' tumour is also known ... Congenital mesoblastic nephroma is a non-cancerous (benign) tumour that occurs in very young children. See separate leaflet called Cancer - A General.
Patient information leaflet
Pianificare una gravidanza
This leaflet offers advice for women who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made..
Patient information leaflet
Malattia renale policistica
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) to develop in the kidneys. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. About half of ADPKD.
Patient information leaflet
Alcohol use disorder
Some people can find it very difficult to control, or stop, their drinking. What is alcohol use disorder. Alcohol use disorder means drinking alcohol in a way that causes harm. If you or a family member has alcohol use disorder poi treatment and support can be provided to help you oppure your family member reduce or stop drinking alcohol. Alcohol use.
Patient information leaflet
Malattia di Huntington
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. Malattia di Huntington è 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.
Ulteriori letture e riferimenti
- 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.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.