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Article

Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.

Proceedings of the National Academy of Sciences of the United States of America - 18 Dec 2001

Yamada K, Chen Z, Rozen R, Matthews R G

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the major methyl donor for the conversion of homocysteine to methionine. Two common polymorphisms of the human enzyme have been identified: 677C>T, which leads to the substitution of Ala-222 by valine, and 1298A>C, which leads to the replacement of Glu-429 by alanine; the former...

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Share to Flavin-Adenine Dinucleotide
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Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Source

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Identifiers

PMID: 11742092
DOI: 10.1073/pnas.261469998
PMCID: PMC64948

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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