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  • dopa-responsive dystonia
  • More than 140 mutations in the GCH1 gene have been found to cause dopa-responsive dystonia. (nih.gov)
  • Dopa-responsive dystonia results when one copy of the GCH1 gene is mutated in each cell. (nih.gov)
  • Tetrahydrobiopterin deficiency is more severe than dopa-responsive dystonia likely because both copies of the GCH1 gene are mutated, which leads to a more severe enzyme shortage than in dopa-responsive dystonia, in which only one copy of the gene has a mutation. (nih.gov)
  • Targets
  • The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. (genecards.org)
  • pathways
  • Among its related pathways are GABAergic synapse and Regulation of CFTR activity (norm and CF) . GO annotations related to this gene include protein kinase binding and adenylate cyclase activity . (genecards.org)
  • Among its related pathways are Mitotic Prophase and Gene Expression . (genecards.org)
  • Ontology
  • Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (nih.gov)
  • mutation
  • A mutation in this gene has also been associated with schizophrenia in men. (genecards.org)
  • A mutation in this gene is associated with arthrogryposis multiplex congenita. (genecards.org)
  • Researchers believe that the abnormal enzyme may interfere with the activity of the normal version of GTP cyclohydrolase 1 that is produced from the copy of the gene with no mutation. (nih.gov)
  • GCH1
  • Polymorphisms in the GTP cyclohydrolase gene ( GCH1 ) are associated with ratings of capsaicin pain. (snpedia.com)
  • Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans. (snpedia.com)
  • The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. (nih.gov)
  • GTPCH1 deficiency results when two copies of the GCH1 gene are mutated in each cell. (nih.gov)
  • mRNA
  • See 17 reference mRNA sequence splice variants for the ARHGAP27 gene. (nih.gov)