MTRR (gene)

5-methyltetrahydrofolate-homocysteine methyltransferase reductase, also known as MTRR, is a human gene.cite web | title = Entrez Gene: MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4552| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4552| accessdate = ]

References

Further reading

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

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