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Literature summary for 1.5.1.20 extracted from

  • Kluijtmans, L.A.J.; den Heijer, M.; Reitsma, P.H.; Heil, S.G.; Blom, H.J.; Rosendaal, F.R.
    Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis (1998), Thromb. Haemost., 79, 254-258.
    View publication on PubMed

Application

Application Comment Organism
medicine methylenetetrahydrofolate reductase deficiency as cause of homocysteinuria Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information homozygous C677T mutation in the MTHFR gene, resulting in a conserved amino acid change from alanine to valine: enzyme with reduced activity and higher thermolability, elevated plasma homocysteine concentrations, but no genetic risk factor for deep-vein thrombosis, irrespective of factor V Leiden genotype Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5,10-methylenetetrahydrofolate + reduced acceptor Homo sapiens remethylation of homocysteine to methionine 5-methyltetrahydrofolate + oxidized acceptor
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5,10-methylenetetrahydrofolate + reduced acceptor
-
Homo sapiens 5-methyltetrahydrofolate + oxidized acceptor
-
?
5,10-methylenetetrahydrofolate + reduced acceptor remethylation of homocysteine to methionine Homo sapiens 5-methyltetrahydrofolate + oxidized acceptor
-
?