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Literature summary for 1.5.1.20 extracted from

  • Chwatko, G.; Boers, G.H.; Strauss, K.A.; Shih, D.M.; Jakubowski, H.
    Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice (2007), FASEB J., 21, 1707-1713.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R377C the mutation increases plasma homocysteine thiolactone levels 59fold Mus musculus
R377C the mutation increases plasma homocysteine thiolactone levels 59fold Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Mus musculus
-
blood
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5,10-methylenetetrahydrofolate + reduced acceptor
-
Mus musculus 5-methyltetrahydrofolate + oxidized acceptor
-
?
5,10-methylenetetrahydrofolate + reduced acceptor
-
Homo sapiens 5-methyltetrahydrofolate + oxidized acceptor
-
?

Synonyms

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