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Literature summary for 1.5.1.20 extracted from
- The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome (2008), Am. J. Med. Genet. A, 146A, 1477-1482.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | C677T and A1298C MTHFR polymorphic variants are associated with the risk of Down syndrome in infants | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 5,10-methylenetetrahydrofolate + acceptor | - |
Homo sapiens | 5-methyltetrahydrofolate + reduced acceptor | - |
? |  |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| methylenetetrahydrofolate reductase | - |
Homo sapiens |
| MTHFR | - |
Homo sapiens |
Cofactor
| Cofactor | Comment | Organism | Structure |
|---|---|---|---|
| FAD | - |
Homo sapiens | |
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Release 2023.1 (January 2023)
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