Methionine synthase reductase
The MTRR gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblE.
Genetests:
Related Diseases:
References:
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Bosco P 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.
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O'Leary VB et al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.
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Hobbs CA et al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.
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4. |
James SJ et al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.
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5. |
Wilson A et al. (1999) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
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6. |
Wilson A et al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.
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7. |
Tauro GP et al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.
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8. |
Zavadáková P et al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
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Zavadakova P et al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.
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10. |
Leclerc D et al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
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11. |
Schuh S et al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.
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Rosenblatt DS et al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).
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13. |
Yamada K et al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.
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14. |
Doolin MT et al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
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15. |
Orphanet article
Orphanet ID 123574
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16. |
NCBI article
NCBI 4552
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17. |
OMIM.ORG article
Omim 602568
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18. |
Wikipedia article
Wikipedia EN (MTRR_(gene))
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Update: Aug. 14, 2020