Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methionine synthase

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

Genetests:

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

Related Diseases:

Homocystinuria-megaloblastic anemia cblG
MTR

References:

1.

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.

[^]
2.

Watkins D et. al. (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

[^]
3.

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

[^]
4.

Gulati S et. al. (1996) Defects in human methionine synthase in cblG patients.

[^]
5.

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.

[^]
6.

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

[^]
7.

Zhang ZX et. al. (1997) The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13.

[^]
8.

Kvittingen EA et. al. (1997) Methionine synthase deficiency without megaloblastic anaemia.

[^]
9.

Wilson A et. al. (1998) Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

[^]
10.

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.

[^]
11.

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.

[^]
12.

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.

[^]
13.

Doolin MT et. al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

[^]
14.

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.

[^]
15.

Zhang Y et. al. (2004) D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.

[^]
16.

Mostowska A et. al. (2006) Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population.

[^]
17.

Yamada K et. al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

[^]
18.

Mostowska A et. al. (2010) Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.

[^]
Update: Sept. 26, 2018