Application | Comment | Organism |
---|---|---|
medicine | mutation in gene for methylenetetrahydrofolate reductase is a cause of moderate homocysteinaemia, which is a risk factor for arteriosclerosis and thrombosis, patients with MTHFR deficiency have low methionine concentrations in plasma | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | C677T mutation in the coding region of the gene, which replaces a conserved alanine by valine residue in enzyme with reduced activity, increased risk for cardiovascular disease, homozygosity results in a thermolabile enzyme and homocysteinaemia | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
5,10-methylenetetrahydrofolate + reduced acceptor | Homo sapiens | homocysteine metabolism | 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 | homocysteine metabolism | Homo sapiens | 5-methyltetrahydrofolate + oxidized acceptor | - |
? |