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Literature summary for 1.5.1.20 extracted from

  • Rozen, R.
    Methylenetetrahydrofolate reductase: a link between folate and riboflavin? (2002), Am. J. Clin. Nutr., 76, 301-302.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information C677T nucleotide polymorphism, thermolabile, homozygotic persons show hyperhomocysteinemia, the homocysteine level can be reduced by riboflavin supplementation which might be useful in therapy of hyperhomocysteinemia, the mutantion affects the vitamin metabolism Homo sapiens

General Stability

General Stability Organism
folate and FAD stabilize the polymorphic mutant enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens in patients with defects in the enzyme the homocysteine concentrations are increased, hyperhomocysteinemia elevates the risk for cardiovascular disease ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information in patients with defects in the enzyme the homocysteine concentrations are increased, hyperhomocysteinemia elevates the risk for cardiovascular disease Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
methylenetetrahydrofolate reductase
-
Homo sapiens
MTHFR
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FAD
-
Homo sapiens