MTRR (gene)

5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Identifiers
Symbols	MTRR ; MGC129643; MSR
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11419
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MTRR 203200 s at tn.png
File:PBB GE MTRR 203199 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

5-methyltetrahydrofolate-homocysteine methyltransferase reductase, also known as MTRR, is a human 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. This gene produces two transcripts.

Further reading

• Leclerc D, Wilson A, Dumas R; et al. (1998). "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria". Proc. Natl. Acad. Sci. U.S.A. 95 (6): 3059–64. PMID 9501215.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilson A, Platt R, Wu Q; et al. (1999). "A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida". Mol. Genet. Metab. 67 (4): 317–23. doi:10.1006/mgme.1999.2879. PMID 10444342.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilson A, Leclerc D, Rosenblatt DS, Gravel RA (1999). "Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism". Hum. Mol. Genet. 8 (11): 2009–16. PMID 10484769.CS1 maint: Multiple names: authors list (link)
• James SJ, Pogribna M, Pogribny IP; et al. (1999). "Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome". Am. J. Clin. Nutr. 70 (4): 495–501. PMID 10500018.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leclerc D, Odièvre M, Wu Q; et al. (2000). "Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene". Gene. 240 (1): 75–88. PMID 10564814.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Doolin MT, Barbaux S, McDonnell M; et al. (2003). "Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida". Am. J. Hum. Genet. 71 (5): 1222–6. PMID 12375236.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olteanu H, Munson T, Banerjee R (2002). "Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase". Biochemistry. 41 (45): 13378–85. PMID 12416982.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zavadakova P, Fowler B, Zeman J; et al. (2003). "CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families". J. Inherit. Metab. Dis. 25 (6): 461–76. PMID 12555939.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pietrzyk JJ, Bik-Multanowski M, Sanak M, Twardowska M (2003). "Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida". J. Appl. Genet. 44 (1): 111–3. PMID 12590188.CS1 maint: Multiple names: authors list (link)
• Zhu H, Wicker NJ, Shaw GM; et al. (2004). "Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects". Mol. Genet. Metab. 78 (3): 216–21. PMID 12649067.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brilakis ES, Berger PB, Ballman KV, Rozen R (2003). "Methylenetetrahydrofolate reductase (MTHFR) 677C>T and methionine synthase reductase (MTRR) 66A>G polymorphisms: association with serum homocysteine and angiographic coronary artery disease in the era of flour products fortified with folic acid". Atherosclerosis. 168 (2): 315–22. PMID 12801615.CS1 maint: Multiple names: authors list (link)
• Sliwerska E, Szpecht-Potocka A (2003). "[Mutations of MTHFR, MTR, MTRR genes as high risk factors for neural tube defects]". Medycyna wieku rozwojowego. 6 (4): 371–82. PMID 12810988.
• Beyer K, Lao JI, Latorre P; et al. (2003). "Methionine synthase polymorphism is a risk factor for Alzheimer disease". Neuroreport. 14 (10): 1391–4. doi:10.1097/01.wnr.0000073683.00308.0e. PMID 12876480.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bosco P, Guéant-Rodriguez RM, Anello G; et al. (2003). "Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome". Am. J. Med. Genet. A. 121 (3): 219–24. doi:10.1002/ajmg.a.20234. PMID 12923861.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olteanu H, Wolthers KR, Munro AW; et al. (2004). "Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase". Biochemistry. 43 (7): 1988–97. doi:10.1021/bi035910i. PMID 14967039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gemmati D, Ongaro A, Scapoli GL; et al. (2004). "Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults". Cancer Epidemiol. Biomarkers Prev. 13 (5): 787–94. PMID 15159311.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leal NA, Olteanu H, Banerjee R, Bobik TA (2005). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase". J. Biol. Chem. 279 (46): 47536–42. doi:10.1074/jbc.M405449200. PMID 15347655.CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vaughn JD, Bailey LB, Shelnutt KP; et al. (2004). "Methionine synthase reductase 66A->G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C->T variant". J. Nutr. 134 (11): 2985–90. PMID 15514263.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)