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GCH1 - GTP cyclohydrolase 1

  • Synonym(s) : dopa-responsive dystonia, DYT5a, GTPCH1
  • 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
  • Ensembl: ENSG00000131979
  • IUPHAR-DB: -
  • Reactome: P30793
  • LOVD: GCH1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Patient-centred resources for this gene

Specialised Social Services

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