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Literature summary extracted from
- Disorders of biopterin metabolism (2009), J. Inherit. Metab. Dis., 32, 333-342.
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 4.2.1.96 | Homo sapiens | - |
- |
- |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 4.2.1.96 | pterin-4alpha-carbinolamine | - |
Homo sapiens | quininoid dihydropterin + H2O | - |
? |  |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 4.2.1.96 | PCD | - |
Homo sapiens |
| 4.2.1.96 | Pterin-4alpha-carbinolamine dehydratase | - |
Homo sapiens |
General Information
| EC Number | General Information | Comment | Organism |
|---|---|---|---|
| 4.2.1.96 | malfunction | PCD deficiency causes in newborns a mild form of hyperphenylalaninaemia with persistent high urinary levels of primapterin. Affected patients appear completely normal, but have elevated phenylalanine levels at birth, which normalize after few months of life and remain normal or just above the normal range of phenylalanine with an unrestricted diet | Homo sapiens |
| 4.2.1.96 | physiological function | PCD is required for the regeneration of tetrahydrobiopterin after phenylalanine hydroxylation. PCD can dimerize with HNF-1a and work as a transcription factor | Homo sapiens |
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Release 2023.1 (January 2023)
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