5-methyltetrahydrofolate-homocysteine methyltransferase
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A MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.
Normal function
A MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.
Conditions referring to this gene or chromosome
Other names
5-methyltetrahydrofolate-homocysteine methyltransferase 1
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
cblG
cobalamin-dependent methionine synthase
Homocysteine-methyl tetrahydrofolate methyltransferase
METH_HUMAN
Methionine Synthase
Tetrahydropteroylglutamate Methyltransferase
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Leitura adicional e referências
- 5-methyltetrahydrofolate-homocysteine methyltransferase; MedlinePlus, National Library of Medicine.
- Bosco P, Gueant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Gueant JL. 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. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234.
- Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. doi: 10.1182/asheducation-2003.1.62.
- Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002 Nov;71(5):1222-6. doi: 10.1086/344209. Epub 2002 Oct 9.
- Gueant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gerard P, Viola M, Salvaggio E, Gueant JL. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett. 2003 Jul 3;344(3):189-92. doi: 10.1016/s0304-3940(03)00468-3.
- Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30.
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