Recombinant Human GTP cyclohydrolase 1 protein (ab114821)



  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号P30793
    • 生物種Human
    • 分子量35 kDa including tags
    • 領域84 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.

  • アプリケーション



    Western blot

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...


  • 保存方法および安定性

    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


  • 別名
    • 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
  • 機能Positively 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.
  • 組織特異性In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • パスウェイCofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.
  • 関連疾患Defects 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.
  • 配列類似性Belongs to the GTP cyclohydrolase I family.
  • 翻訳後修飾Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • 細胞内局在Cytoplasm. Nucleus.
  • Information by UniProt

Recombinant Human GTP cyclohydrolase 1 protein 画像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

Recombinant Human GTP cyclohydrolase 1 protein (ab114821) 使用論文

ab114821 has not yet been referenced specifically in any publications.

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