Overview

  • Product name

  • Description

    Goat polyclonal to GCH1
  • Host species

    Goat
  • Specificity

    ab106826 is expected to recognize all four isoforms (NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1).
  • Tested applications

    Suitable for: WBmore details
  • Species reactivity

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

    Synthetic peptide corresponding to Human GCH1 aa 150-161 (internal sequence). (NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1)
    Sequence:

    C-GKVHIGYLPNKQ

  • Positive control

    • Human Lymph Node, Thymus and Tonsil lysates
  • General notes

     This product was previously labelled as GTP cyclohydrolase 1

     

Properties

Applications

Our Abpromise guarantee covers the use of ab106826 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 - 3 µg/ml. Detects a band of approximately 37 kDa (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 (ab106826) at 1 µg/ml + Human thymus lysate in RIPA buffer at 35 µg

    Developed using the ECL technique.

    Predicted band size: 28 kDa
    Observed band size: 37 kDa
    why is the actual band size different from the predicted?



    Primary incubation was 1 hour.

References

ab106826 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

Application
Western blot
Sample
Rabbit Tissue lysate - whole (fetal brain)
Gel Running Conditions
Non-reduced Denaturing
Loading amount
2 µg
Specification
fetal brain
Blocking step
BSA as blocking agent for 30 minute(s) · Concentration: 5% · Temperature: 20°C

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Verified customer

Submitted Dec 12 2016

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