Anti-GTP cyclohydrolase 1 antibody (ab171920)

Overview

  • Product name
    Anti-GTP cyclohydrolase 1 antibody
    See all GTP cyclohydrolase 1 primary antibodies
  • Description
    Rabbit polyclonal to GTP cyclohydrolase 1
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Human
  • Immunogen

    Full length protein corresponding to Human GTP cyclohydrolase 1 aa 1-250.
    Sequence:

    MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPA DGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVG KVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS


    Database link: NP_000152.1

  • Positive control
    • GTP cyclohydrolase 1-transfected 293T cell lysate.

Properties

Applications

Our Abpromise guarantee covers the use of ab171920 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

  • All lanes : Anti-GTP cyclohydrolase 1 antibody (ab171920) at 1 µg/ml

    Lane 1 : GTP cyclohydrolase 1-transfected 293T cell lysate
    Lane 2 : Non-transfected 293T cell lysate

    Lysates/proteins at 15 µl per lane.

    Secondary
    Goat Anti-Rabbit IgG (H+L) at 1/7500 dilution
    Developed using the ECL technique

    Predicted band size : 28 kDa

References

ab171920 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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