methylmalonyl-CoA epimerase
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Der MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the molecule methylmalonyl CoA to another. Specifically, the enzyme converts D-methylmalonyl CoA to L-methylmalonyl CoA. This conversion takes place within the pathway that converts the molecule propionyl-CoA to succinyl-CoA. This pathway is important in the breakdown of certain protein building blocks (amino acids), specific fats (lipids), and cholesterol.
Normal function
Der MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the molecule methylmalonyl CoA to another. Specifically, the enzyme converts D-methylmalonyl CoA to L-methylmalonyl CoA. This conversion takes place within the pathway that converts the molecule propionyl-CoA to succinyl-CoA. This pathway is important in the breakdown of certain protein building blocks (amino acids), specific fats (lipids), and cholesterol.
Conditions referring to this gene or chromosome
Other names
DL-methylmalonyl-CoA racemase
GLOD2
glyoxalase domain containing 2
MCEE_HUMAN
methylmalonyl CoA epimerase
methylmalonyl-CoA epimerase, mitochondrial
methylmalonyl-CoA epimerase, mitochondrial precursor
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Weiterführende Lektüre und Referenzen
- methylmalonyl-CoA epimerase; MedlinePlus, National Library of Medicine.
- Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. doi: 10.1002/humu.20373.
- Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab. 2006 Aug;88(4):327-33. doi: 10.1016/j.ymgme.2006.03.009. Epub 2006 May 11.
- Gradinger AB, Belair C, Worgan LC, Li CD, Lavallee J, Roquis D, Watkins D, Rosenblatt DS. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). Hum Mutat. 2007 Oct;28(10):1045. doi: 10.1002/humu.9507.
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1. Jun 2021 | Neueste Version
1 Jul 2011 | Ursprünglich veröffentlicht
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