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FLASH GENE
Symbol GCH1 contributors: mct/npt - updated : 03-01-2017
HGNC name GTP cyclohydrolase 1
HGNC id 4193
ASSOCIATED DISORDERS
corresponding disease(s) DYT5 , GTPCD
related resource GTP Cyclohydrolase I deficiency-BIOMED/BIODEF database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease that classically presents in childhood with generalized dystonia and a dramatic long-lasting response to levodopa
Susceptibility
  • to bipolar disorder
  • to pain in advanced cancer
  • to Parkinson disease
  • Variant & Polymorphism other
  • genetic variant delaying cancer pain (Lotsch 2010)
  • rare GCH1 variants are associated with an increased risk for Parkinson disease
  • Candidate gene
    Marker
    Therapy target
  • future possibility of using partial GCH1 blockade or BH4 inhibition as a prophylactic to prevent or delay the development of cancer pain (Lötsch 2010)
  • ANIMAL & CELL MODELS