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Literature summary for 3.5.4.16 extracted from
- Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family (2008), Genet. Mol. Res., 7, 687-694.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | the mutation in the intron 5 splicing site of the GCH1 gene, IVS5+3insT, causes Dopa-responsive dystonia (also known as Segawa syndrome or hereditary progressive dystonia with diurnal fluctuation) | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| GCH1 | - |
Homo sapiens |
| GTP cyclohydrolase 1 | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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