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Literature summary extracted from

  • Trimmer, E.
    Methylenetetrahydrofolate reductase: Biochemical characterization and medical significance (2013), Curr. Pharm. Des., 19, 2574-2593.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.5.1.20 additional information a C677T polymorphism is associated with an increased risk for the development of cardiovascular disease, Alzheimer’s disease, and depression in adults and of neural tube defects in the fetus 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 + NAD(P)H + H+ Homo sapiens
-
 5-methyltetrahydrofolate + NAD(P)+
-
 ?

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 + NAD(P)H + H+
-
 Homo sapiens 5-methyltetrahydrofolate + NAD(P)+
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.5.1.20 MTHFR
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.5.1.20 NADH
-
 Homo sapiens
1.5.1.20 NADPH
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.5.1.20 malfunction mutations in the enzyme lead to hyperhomocysteinemia. A C677T polymorphism is associated with an increased risk for the development of cardiovascular disease, Alzheimer's disease, and depression in adults and of neural tube defects in the fetus Homo sapiens
1.5.1.20 metabolism the enzyme plays a key role in folate metabolism and in the homeostasis of homocysteine Homo sapiens