Official Full Name
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
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. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms.
MTRR; 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; methionine synthase reductase; cblE; [methionine synthase] cobalamin methyltransferase (cob(II)alamin reducing); 5 methyltetrahydrofolate homocysteine methyltransferase reductase; Methionine synthase reductase, mitochondrial; MGC129643; MSR; OTTHUMP00000115546; OTTHUMP00000220821; [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing); MSR, cblE