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Literature summary for 3.5.4.16 extracted from
- Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein (2008), Biochim. Biophys. Acta, 1782, 169-179.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | mutations in GCH are associated with dopa-responsive dystonia and hyperphenylalaninemia | Homo sapiens |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expressed in Escherichia coli, baby hamster kidney cells, and NIH-293 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| G201E | expression of the GCH mutant G201E (or the splicing variant GCH-II) causes intracellular inclusion bodies | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| cytoplasm | - |
Homo sapiens | 5737 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| GCH | - |
Homo sapiens |
| GTP-cyclohydrolase I | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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