methylenetetrahydrofolate reductase
עודכן לאחרונה 8 May 2023
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ה MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of folate called 5,10-methylenetetrahydrofolate to a different form of folate called 5-methyltetrahydrofolate. This is the primary form of folate found in blood, and is necessary for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Normal function
ה MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of folate called 5,10-methylenetetrahydrofolate to a different form of folate called 5-methyltetrahydrofolate. This is the primary form of folate found in blood, and is necessary for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Conditions referring to this gene or chromosome
Other names
5,10-methylenetetrahydrofolate reductase
5,10-methylenetetrahydrofolate reductase (NADPH)
methylenetetrahydrofolate reductase (NAD(P)H)
MTHR_HUMAN
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ערמונית מוגדלת
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בעיות בערמונית
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טבליות פרבסטטין
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טבליות וכמוסות פלובסטטין
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קריאה נוספת והפניות
- methylenetetrahydrofolate reductase; MedlinePlus, National Library of Medicine.
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- Liu F, Silva D, Malone MV, Seetharaman K. MTHFR A1298C and C677T Polymorphisms Are Associated with Increased Risk of Venous Thromboembolism: A Retrospective Chart Review Study. Acta Haematol. 2017;138(4):208-215. doi: 10.1159/000480447. Epub 2017 Dec 7.
- Moll S, Varga EA. Homocysteine and MTHFR Mutations. Circulation. 2015 Jul 7;132(1):e6-9. doi: 10.1161/CIRCULATIONAHA.114.013311. No abstract available.
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- Yadav U, Kumar P, Yadav SK, Mishra OP, Rai V. "Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis". Metab Brain Dis. 2015 Feb;30(1):7-24. doi: 10.1007/s11011-014-9575-7. Epub 2014 Jul 9.
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