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 |
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 |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.5.1.20 | Homo sapiens | - |
- |
- |
4.2.1.22 | Homo sapiens | - |
- |
- |
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 |
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 |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
4.2.1.22 | pyridoxal 5'-phosphate | - |
Homo sapiens |