Product nameAnti-GTP cyclohydrolase 1 antibody
See all GTP cyclohydrolase 1 primary antibodies
DescriptionRabbit polyclonal to GTP cyclohydrolase 1
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Human
Full length protein corresponding to Human GTP cyclohydrolase 1 aa 1-250.
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPA DGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVG KVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
Database link: NP_000152.1
- GTP cyclohydrolase 1-transfected 293T cell lysate.
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferpH: 7.2
Constituent: 100% PBS
Concentration information loading...
PurityProtein A purified
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.
|WB||Use a concentration of 1 µg/ml. Predicted molecular weight: 28 kDa.|
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.
modificationsPhosphorylated 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
- dystonia 14 antibody
- DYT 5 antibody
- DYT14 antibody
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.
All lanes : Goat Anti-Rabbit IgG (H+L) at 1/7500 dilution
Developed using the ECL technique.
Predicted band size: 28 kDa
ab171920 has not yet been referenced specifically in any publications.