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Literature summary for 4.2.3.12 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 |
|---|---|---|
| additional information | compound heterozygous or homozygous mutations are spread over the entire genes for PTS with 44 mutant alleles | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| 6-pyruvoyl-tetrahydropterin synthase | - |
Homo sapiens |
| PTS | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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