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Methionine synthase

The MTR gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblG.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Homocystinuria-megaloblastic anemia cblG



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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Chen LH et al. (1997) Human methionine synthase. cDNA cloning, gene localization, and expression.

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Li YN et al. (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene.

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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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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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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 external link

OMIM.ORG article

Omim 156570 external link

Orphanet article

Orphanet ID 123572 external link

Wikipedia article

Wikipedia EN (Methionine_synthase) external link
Update: Aug. 14, 2020
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