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Literature summary for 1.5.1.20 extracted from
- Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia (1998), Eur. J. Pediatr., 157, 131-134.
No PubMed abstract available
Application
| 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
| 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/ Products (Substrates)
| 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
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| 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 | - |
? | |
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Release 2023.1 (January 2023)
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