Key features and details
- Mouse polyclonal to GCH1
- Suitable for: WB, ICC/IF
- Reacts with: Human
- Isotype: IgG
Product nameAnti-GCH1 antibody
See all GCH1 primary antibodies
DescriptionMouse polyclonal to GCH1
Tested applicationsSuitable for: WB, ICC/IFmore details
Species reactivityReacts with: Human
Full length protein corresponding to Human GCH1.
Database link: NP_000152.1
- GCH1 transfected 293T cell lysate.
This product was previously labelled as GTP cyclohydrolase 1
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.20
Constituent: 2.68% PBS
Concentration information loading...
PurityProtein G purified
Our Abpromise guarantee covers the use of ab69962 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/1000. Detects a band of approximately 28 kDa (predicted molecular weight: 28 kDa).|
|ICC/IF||Use a concentration of 10 µg/ml.|
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
Immunocytochemistry of HeLa cells staining GCH1 using ab69962 at 10μg/ml.
All lanes : Anti-GCH1 antibody (ab69962) at 1/500 dilution
Lane 1 : GCH1 transfected 293T cell lysate
Lane 2 : Non-transfected 293T cell lysate
Lysates/proteins at 25 µg per lane.
All lanes : Goat Anti-Mouse IgG (H&L)-HRP Conjugate at 1/2500 dilution
Predicted band size: 28 kDa
Observed band size: 28 kDa
ab69962 has been referenced in 1 publication.
- Wu F et al. Nox2-dependent glutathionylation of endothelial NOS leads to uncoupled superoxide production and endothelial barrier dysfunction in acute lung injury. Am J Physiol Lung Cell Mol Physiol 307:L987-97 (2014). PubMed: 25326583