Species Human Entrez 4552 | Human Mouse Ensembl ENSG00000124275 | |
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Aliases MTRR, MSR, cblE, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase External IDs MGI: 1891037 HomoloGene: 11419 GeneCards: MTRR | ||
Methionine synthase reductase also known as MSR is an enzyme that in humans is encoded by the MTRR gene.
Contents
Function
Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. Methionine synthase reductase regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases.
Clinical significance
Patients of the cblE complementation group of disorders of folate/cobalamin metabolism which results in homocystinuria are defective in reductive activation of methionine synthase.
References
MTRR (gene) Wikipedia(Text) CC BY-SA