methylmalonyl-CoA mutase
Dernière mise à jour 1 juin 2021
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La MMUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers.
Normal function
La MMUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers.
Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called methylmalonyl CoA. Then, working with a compound called adenosylcobalamin (AdoCbl), which is a form of vitamin B12, methylmalonyl CoA mutase converts methylmalonyl CoA to a compound called succinyl-CoA. Other enzymes break down succinyl-CoA into molecules that are later used for energy.
Conditions referring to this gene or chromosome
Other names
MCM
methylalonyl-CoA mutase
methylamlony-CoA isomerase
methylmalonyl CoA mutase
methylmalonyl Coenzyme A mutase
methylmalonyl Coenzyme A mutase precursor
MUT
MUTA_HUMAN
Related patient information and medicines
Patient information leaflet
Coarctation de l'aorte
How common est coarctation of the aorta. Congenital heart disease occurs in about 7 in 1,000 pregnancies and coarctation of the aorta is just one type of congenital heart disease. Around 1 in 2,500 babies have coarctation of the aorta. The condition is twice as common in males as it is in females and it is one of the more common congenital heart.
Medicine leaflet
Comprimés de pravastatine
Over time, these patches can make a blood vessel narrower and this is called... The narrowing reduces the blood flow through the artery and increases the risk of a number of heart and blood vessel diseases, such as heart attack and stroke. Pravastatin belongs to a group of medicines known as statines (ou HMG-CoA reductase inhibitors). It reduces.
Medicine leaflet
Comprimés et capsules de fluvastatine
Fluvastatin belongs to a group of medicines known as statins. It regulates the amount of cholesterol and other lipids made by your body, and helps to reduce the risk of heart and blood vessel disease. The narrowing reduces the blood flow through the artery and increases the risk of a number of heart and blood vessel diseases, such a... Fluvastatin.
Medicine leaflet
Rosuvastatine
Rosuvastatine belongs to a group of medicines known as statins. It regulates the amount of cholesterol and other lipids made by your body, and helps to reduce the risk of heart and blood vessel disease. The narrowing reduces the blood flow through the artery and increases the risk of a number of heart and blood vessel diseases, such... Rosuvastatin.
Medicine leaflet
Simvastatine
Simvastatine belongs to a group of medicines known as statins. About simvastatine Type of medicine A lipid-regulating medicine commonly known as a statin Used for Lowering cholesterol and other lipids in the blood; to reduce the risk of heart and blood vessel disease Also called Zocor®; Combination brand: Inegy® (simvastatin with ezetimibe ).
Medicine leaflet
Comprimés d'atorvastatine
About atorvastatin Type of medicine A lipid-regulating medicine commonly known as a statin Used for Lowering cholesterol and other lipids; to reduce the risk of heart and blood vessel disease Also called (UK) Lipitor® Also called (USA) Lipitor®; Combination brand: Caduet® (atorvastatin with amlodipine ) Available as Tablets and chewable tablets.
Lectures complémentaires et références
- methylmalonyl-CoA mutase; MedlinePlus, National Library of Medicine.
- Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat. 2005 Feb;25(2):167-76. doi: 10.1002/humu.20128.
- Benoist JF, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon JP, Porquet D, Elion J. Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency. Mol Genet Metab. 2001 Feb;72(2):181-4. doi: 10.1006/mgme.2000.3122.
- Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab. 2005 Sep-Oct;86(1-2):34-43. doi: 10.1016/j.ymgme.2005.07.020. Epub 2005 Sep 22.
- Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. Hum Mutat. 2000 Aug;16(2):179. doi: 10.1002/1098-1004(200008)16:23.0.CO;2-R.
- Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kolker S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f.
- Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1231/
- Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. Hum Mutat. 2002 Nov;20(5):406. doi: 10.1002/humu.9074.
- Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat. 2006 Jan;27(1):31-43. doi: 10.1002/humu.20258.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.