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Literature summary for 1.5.1.20 extracted from
- Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism (2007), Prenat. Diagn., 27, 704-708.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| additional information | the MTHFR gene polymorphism C677T is not associated with congenital heart disease and may be linked to the development of aortic arch anomalies | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| buccal mucosa | - |
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 | - |
ir |  |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| methylenetetrahydrofolate reductase | - |
Homo sapiens |
| MTHFR | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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