RGD Reference Report - Methylenetetrahydrofolate reductase: a common human polymorphism and its biochemical implications. - Rat Genome Database

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Methylenetetrahydrofolate reductase: a common human polymorphism and its biochemical implications.

Authors: Matthews, RG 
Citation: Matthews RG Chem Rec 2002;2(1):4-12.
RGD ID: 1535021
Pubmed: PMID:11933257   (View Abstract at PubMed)

Methlenetetrahydrofolate (CH2-H4folate) is required for the conversion of homocysteine to methionine and of dUMP to dTMP in support of DNA synthesis, and also serves as a major source of one carbon unit for purine biosynthesis. This review presents biochemical studies of a human polymorphism in methylenetetrahydrofolate reductase, which catalyzes the reaction shown below. The mutation decreases the flux of CH2-H4folate into CH3-H4folate, and is associated with both beneficial and deleterious effects that can be traced to the molecular effect of the substitution of alanine 222 by valine.

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information