Methionine synthase
The MTR gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblG.
Genetests:
Related Diseases:
References:
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Leclerc D et al. (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
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Mostowska A et al. (2010) Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.
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Yamada K et al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.
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Mostowska A et al. (2006) Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population.
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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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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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Paz MF et al. (2002) Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.
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Christensen B et al. (1999) Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.
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Zhang ZX et al. (1997) The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13.
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10. |
Chen LH et al. (1997) Human methionine synthase. cDNA cloning, gene localization, and expression.
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11. |
Li YN et al. (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene.
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12. |
Mellman IS et al. (1979) Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.
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13. |
Zhang Y et al. (2004) D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.
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14. |
Watkins D et al. (2002) Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
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Wilson A et al. (1998) Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.
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Kvittingen EA et al. (1997) Methionine synthase deficiency without megaloblastic anaemia.
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Gulati S et al. (1996) Defects in human methionine synthase in cblG patients.
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Watkins D et al. (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.
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NCBI article
NCBI 4548
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OMIM.ORG article
Omim 156570
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Orphanet article
Orphanet ID 123572
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Wikipedia article
Wikipedia EN (Methionine_synthase)
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Update: Aug. 14, 2020