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Literature summary for 1.5.1.20 extracted from

  • Trimmer, E.
    Methylenetetrahydrofolate reductase: Biochemical characterization and medical significance (2013), Curr. Pharm. Des., 19, 2574-2593.
    View publication on PubMed
Search for more literature for 1.5.1.20

Protein Variants

Protein Variants Comment Organism
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)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5,10-methylenetetrahydrofolate + NAD(P)H + H+ Homo sapiens
-
 5-methyltetrahydrofolate + NAD(P)+
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5,10-methylenetetrahydrofolate + NAD(P)H + H+
-
 Homo sapiens 5-methyltetrahydrofolate + NAD(P)+
-
 ?

Synonyms

Synonyms Comment Organism
MTHFR
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADH
-
 Homo sapiens
NADPH
-
 Homo sapiens

General Information

General Information Comment Organism
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
metabolism the enzyme plays a key role in folate metabolism and in the homeostasis of homocysteine Homo sapiens