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Literature summary for 4.2.1.96 extracted from
- Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase (2006), Hum. Mutat., 27, 870-878.
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| C82R | mutant enzyme expressed as a soluble form has 40% of normal activity | Homo sapiens |
| E97K | a biopsy of duodenal mucosa from a patient with homozygous E97K mutation has 17% of normal activity | Homo sapiens |
| additional information | nine different mutations detected in patients with PCD deficiency. All these mutations are associated with a benign form of tetrahydrobiopterin deficiency, characterized by persistent urinary excretion of 7-substituted biopterin (primapterin or primapterinuria) and transient hyperphenylalaninemia. Most of the mutations recognized in patients with PCD deficiency are either a single amino acid change or a stop codon | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| carbinolamine-4a-dehydratase | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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