Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Methionine synthase reductase

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

Genetests:

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 cblE
MTRR

References:

1.

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.

external link
2.

O'Leary VB et al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

external link
3.

Hobbs CA et al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

external link
4.

James SJ et al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

external link
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.

external link
6.

Wilson A et al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

external link
7.

Tauro GP et al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.

external link
8.

Zavadáková P et al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

external link
9.

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.

external link
10.

Leclerc D et al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

external link
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.

external link
12.

Rosenblatt DS et al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

external link
13.

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

external link
14.

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

external link
15.

Orphanet article

Orphanet ID 123574 external link
16.

NCBI article

NCBI 4552 external link
17.

OMIM.ORG article

Omim 602568 external link
18.

Wikipedia article

Wikipedia EN (MTRR_(gene)) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues