Recombinant Human GTP cyclohydrolase 1 protein (ab114821)



  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP30793
    • SpeciesHuman
    • Molecular weight35 kDa including tags
    • Amino acids84 to 172


Our Abpromise guarantee covers the use of ab114821 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications



    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • dystonia 14
    • DYT 5
    • DYT14
    • DYT5
    • DYT5a
    • GCH
    • GCH 1
    • Gch1
    • GCH1_HUMAN
    • GTP CH 1
    • GTP CH I
    • GTP cyclohydrolase 1
    • GTP cyclohydrolase 1 (dopa responsive dystonia)
    • GTP cyclohydrolase I
    • GTP-CH-I
    • GTPCH 1
    • GTPCH1
    • Guanosine 5' triphosphate cyclohydrolase I
    • HPABH4B
    see all
  • FunctionPositively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
  • Tissue specificityIn epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • PathwayCofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.
  • Involvement in diseaseDefects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]; also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.
    Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without side effects.
  • Sequence similaritiesBelongs to the GTP cyclohydrolase I family.
  • Post-translational
    Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • Cellular localizationCytoplasm. Nucleus.
  • Information by UniProt

Recombinant Human GTP cyclohydrolase 1 protein images

  • 12.5% SDS-PAGE Stained with Coomassie Blue

References for Recombinant Human GTP cyclohydrolase 1 protein (ab114821)

ab114821 has not yet been referenced specifically in any publications.

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