Aliases for MTRR Gene
External Ids for MTRR Gene
Previous GeneCards Identifiers for MTRR Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTRR Gene
MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) is a Protein Coding gene. Diseases associated with MTRR include homocystinuria without methylmalonic aciduria and homocystinuria-megaloblastic anemia, cbl e type. Among its related pathways are Infectious disease and Metabolism. GO annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding. An important paralog of this gene is NOS1.
UniProtKB/Swiss-Prot for MTRR Gene
Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.