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Literature summary extracted from

  • Blom, H.J.
    Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia (1998), Eur. J. Pediatr., 157, 131-134.
No PubMed abstract available

Application

EC Number Application Comment Organism
1.5.1.20 medicine mutation in gene for methylenetetrahydrofolate reductase is a cause of moderate homocysteinaemia, which is a risk factor for arteriosclerosis and thrombosis, patients with MTHFR deficiency have low methionine concentrations in plasma Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.5.1.20 additional information C677T mutation in the coding region of the gene, which replaces a conserved alanine by valine residue in enzyme with reduced activity, increased risk for cardiovascular disease, homozygosity results in a thermolabile enzyme and homocysteinaemia Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.5.1.20 5,10-methylenetetrahydrofolate + reduced acceptor Homo sapiens homocysteine metabolism 5-methyltetrahydrofolate + oxidized acceptor
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 ?

Organism

EC Number Organism UniProt Comment Textmining
1.5.1.20 Homo sapiens
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-
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Substrates and Products (Substrate)

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