Literature summary 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.

Application

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

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.5.1.20	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)

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	remethylation of homocysteine to methionine	5-methyltetrahydrofolate + oxidized acceptor	-	?

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 + reduced acceptor	-	Homo sapiens	5-methyltetrahydrofolate + oxidized acceptor	-	?
1.5.1.20	5,10-methylenetetrahydrofolate + reduced acceptor	remethylation of homocysteine to methionine	Homo sapiens	5-methyltetrahydrofolate + oxidized acceptor	-	?

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Release 2023.1 (January 2023)