Application | Comment | Organism |
---|---|---|
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 | Comment | Organism |
---|---|---|
additional information | the C677T gene polymorphism is associated with increased homocysteine and decreased folate concentrations | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
5,10-methylenetetrahydrofolate + reduced acceptor | - |
Homo sapiens | 5-methyltetrahydrofolate + oxidized acceptor | - |
? |
Synonyms | Comment | Organism |
---|---|---|
5,10-methylenetetrahydrofolate reductase | - |
Homo sapiens |
MTHFR | - |
Homo sapiens |