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GCH1 - GTP cyclohydrolase 1
- Synonym(s) : dopa-responsive dystonia, DYT5a, GTPCH1, GTP cyclohydrolase I
- Previous symbols and names : DYT14, DYT5, GCH, dystonia 14
- Type : gene with protein product
- Chromosomal location : 14q22.2
- OMIM: 600225
- HGNC: 4193
- UniProtKB: P30793
- Genatlas: GCH1
- GenCC: GCH1
- Ensembl: ENSG00000131979
- IUPHAR-DB: -
- Reactome: P30793
- LOVD: GCH1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant dopa-responsive dystonia
ORPHA:98808 
- Disease-causing germline mutation(s) in GTP cyclohydrolase I deficiency
ORPHA:2102
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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