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Literature summary extracted from

  • Summers, C.M.; Hammons, A.L.; Mitchell, L.E.; Woodside, J.V.; Yarnell, J.W.; Young, I.S.; Evans, A.; Whitehead, A.S.
    Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations (2008), Eur. J. Hum. Genet., 16, 1010-1013.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
1.5.1.20 medicine MTHFR mutant C677T homozygotes who are also carriers of cystathione beta-synthase 844ins68 polymorphism have homocysteine and folate concentrations similar to those of individuals with the MTHFR heterozygous C677C/C677T and wild-type genotypes. Homocysteine levels in MTHFR double mutant subjects carrying the cystathione beta-synthase 844ins68 allele are 24.1% lower than in non-carriers, and serum folate levels are 27.7% higher. These suggests that the cystathione beta-synthase 844ins68 allele normalizes homocysteine and folate levels in MTHFR C677T/C677T individuals Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.5.1.20 additional information the C677T gene polymorphism is associated with increased homocysteine and decreased folate concentrations Homo sapiens
4.2.1.22 additional information homocysteine levels in 5,10-methylenetetrahydrofolate reductase 677TT homozygotes who carry the cystathionine beta-synthase 844ins68 allele are significantly lower than in those who do not Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.5.1.20 Homo sapiens
-
-
-
4.2.1.22 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
-
?
4.2.1.22 L-serine + L-homocysteine
-
Homo sapiens L-cystathionine + H2O
-
ir

Synonyms

EC Number Synonyms Comment Organism
1.5.1.20 5,10-methylenetetrahydrofolate reductase
-
Homo sapiens
1.5.1.20 MTHFR
-
Homo sapiens
4.2.1.22 CBS
-
Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
4.2.1.22 pyridoxal 5'-phosphate
-
Homo sapiens