Application | Comment | Organism |
---|---|---|
medicine | methylenetetrahydrofolate reductase deficiency as cause of homocysteinuria | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | homozygous C677T mutation in the MTHFR gene, resulting in a conserved amino acid change from alanine to valine: enzyme with reduced activity and higher thermolability, elevated plasma homocysteine concentrations, but no genetic risk factor for deep-vein thrombosis, irrespective of factor V Leiden genotype | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
5,10-methylenetetrahydrofolate + reduced acceptor | Homo sapiens | remethylation of homocysteine to methionine | 5-methyltetrahydrofolate + oxidized acceptor | - |
? |
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 | - |
? | |
5,10-methylenetetrahydrofolate + reduced acceptor | remethylation of homocysteine to methionine | Homo sapiens | 5-methyltetrahydrofolate + oxidized acceptor | - |
? |