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Literature summary extracted from

  • Martinez-Frias, M.L.
    The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome (2008), Am. J. Med. Genet. A, 146A, 1477-1482.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.5.1.20 additional information C677T and A1298C MTHFR polymorphic variants are associated with the risk of Down syndrome in infants Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.5.1.20 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.5.1.20 5,10-methylenetetrahydrofolate + acceptor
-
Homo sapiens 5-methyltetrahydrofolate + reduced acceptor
-
?

Synonyms

EC Number Synonyms Comment Organism
1.5.1.20 methylenetetrahydrofolate reductase
-
Homo sapiens
1.5.1.20 MTHFR
-
Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.5.1.20 FAD
-
Homo sapiens