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MTR wt Allele

Known as: 5-Methyltetrahydrofolate-Homocysteine Methyltransferase wt Allele, MS, cblG 
Human MTR wild-type allele is located in the vicinity of 1q43 and is approximately 109 kb in length. This allele, which encodes methionine synthase… 
National Institutes of Health

Related topics

Related topics

6 relations
1q43Amino Acid BiosynthesisMTR protein, humanMethylation

Broader (1)

MTR gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations… 
Review
2012
Review
2012
Methionine Synthase Deficiency (cblG): A Rare Cause of Adult Onset Leukoencephalopathy with Reversible Neurological Deficit (P01.124)
Objective: To describe a very rare cause of leucoencepahlopathy with adult onset. Background The presentation of cobalamin (cbl… 
Review
2009
Review
2009
cblC: Advances in defining the MMACHC mutation spectrum
In 1975 Mahoney et al. (Proc Natl Acad Sci USA 72:2799–803) named those mutants with deficient accumulation of both… 
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… 
1993
1993
Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency.
The clinical findings in patients with MR deficiency, the most common inborn error of folate metabolism, range from death in… 
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… 
1989
1989
The nature of the defect in cobalamin G mutation.
Cobalamin G mutation (cblG) typically presents as a severe megaloblastic anemia during the first few weeks of life. The anemia… 
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