Overview

  • Product name

    Anti-GCH1 antibody - N-terminal
    See all GCH1 primary antibodies
  • Description

    Rabbit polyclonal to GCH1 - N-terminal
  • Host species

    Rabbit
  • Tested applications

    Suitable for: WBmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Rat, Rabbit, Cow, Dog, Pig
  • Immunogen

    Synthetic peptide within Human GCH1 aa 39-88 (N terminal). The exact sequence is proprietary.
    Sequence:

    PPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQR


    Database link: P30793

  • Positive control

    • Human fetal heart tissue
  • General notes

     This product was previously labelled as GTP cyclohydrolase 1

     

Properties

Applications

Our Abpromise guarantee covers the use of ab186633 in the following tested applications.

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

Application Abreviews Notes
WB Use a concentration of 1 µg/ml. Predicted molecular weight: 28 kDa.

Target

  • Function

    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.
  • Tissue specificity

    In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • Pathway

    Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the GTP cyclohydrolase I family.
  • Post-translational
    modifications

    Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • Cellular localization

    Cytoplasm. Nucleus.
  • Information by UniProt
  • Database links

  • Alternative names

    • dystonia 14 antibody
    • DYT 5 antibody
    • DYT14 antibody
    • DYT5 antibody
    • DYT5a antibody
    • GCH 1 antibody
    • GCH antibody
    • Gch1 antibody
    • GCH1_HUMAN antibody
    • GTP CH 1 antibody
    • GTP CH I antibody
    • GTP cyclohydrolase 1 (dopa responsive dystonia) antibody
    • GTP cyclohydrolase 1 antibody
    • GTP cyclohydrolase I antibody
    • GTP-CH-I antibody
    • GTPCH 1 antibody
    • GTPCH1 antibody
    • Guanosine 5' triphosphate cyclohydrolase I antibody
    • HPABH4B antibody
    see all

Images

  • Anti-GCH1 antibody - N-terminal (ab186633) at 1 µg/ml + Human fetal heart tissue lysate at 10 µg

    Developed using the ECL technique.

    Predicted band size: 28 kDa

References

ab186633 has not yet been referenced specifically in any publications.

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