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MTRR wt Allele

Known as: 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase wt Allele, MSR, cblE 
Human MTRR wild-type allele is located in the vicinity of 5p15.31 and is approximately 55 kb in length. This allele, which encodes methionine… 
National Institutes of Health

Related topics

Related topics

2 relations
Amino Acid BiosynthesisOxidation-Reduction

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism
BackgroundThe cblE disorder is an inherited disorder of vitamin B12 metabolism that results in elevated levels of homocysteine… 
2007
2007
[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children].
INTRODUCTION Defects of methionine synthase or methionine synthase reductase result in an impaired remethylation of homocysteine… 
2007
2007
Diagnostic significance of urinary thiodiglycolic acid as a possible tool for studying the role of vitamins B12 and folates in the metabolism of thiolic substances.
We have found that the determination of thiodiglycolic acid (TDGA) in urine may help to characterize metabolic imbalance of… 
2005
2005
Disturbed visual system function in methionine synthase deficiency
BackgroundIsolated functional methionine synthase deficiency occurs in the cblE and cblG defects of methylcobalamin metabolism… 
2003
2003
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental… 
Highly Cited
1999
Highly Cited
1999
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of folate/cobalamin metabolism leading to… 
Highly Cited
1997
Highly Cited
1997
Defects in Auxiliary Redox Proteins Lead to Functional Methionine Synthase Deficiency*
Methionine synthase catalyzes a methyl transfer reaction from methyltetrahydrofolate to homocysteine to form methionine and… 
1992
1992
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.
1992
1992
Methionine auxotrophy in inborn errors of cobalamin metabolism.
Several of the inborn errors of vitamin B12 (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with… 
1987
1987
Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.
A male infant with methyl-B12 deficiency (cblE) presented at age 6 weeks with lethargy, staring spells, and vomiting. He later… 
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