Key features and details
- Mouse monoclonal [OTI5A1] to GCH1
- Suitable for: WB, IHC-P
- Reacts with: Human
- Isotype: IgG1
Product nameAnti-GCH1 antibody [OTI5A1]
See all GCH1 primary antibodies
DescriptionMouse monoclonal [OTI5A1] to GCH1
Tested applicationsSuitable for: WB, IHC-Pmore details
Species reactivityReacts with: Human
Predicted to work with: Rat
Recombinant full length protein corresponding to Human GCH1 aa 1-250. Produced in E.coli (NP_001019195).
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPA DGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVG KVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
Database link: P30793-1
- WB: HEK-293T cell lysate transfected with pCMV6-ENTRY GCH1 cDNA for 48 hrs. IHC-P: Human skin, placenta and spleen carcinoma tissues.
This product was previously labelled as GTP cyclohydrolase 1
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: 7.30
Preservative: 0.02% Sodium azide
Constituents: PBS, 1% BSA, 50% Glycerol
Concentration information loading...
Purification notesPurified from cell culture supernatant.
Our Abpromise guarantee covers the use of ab236387 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/2000. Predicted molecular weight: 28 kDa.|
|IHC-P||1/500. Perform heat mediated antigen retrieval with Tris/EDTA buffer pH 9.0 before commencing with IHC staining protocol.|
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-GCH1 antibody [OTI5A1] (ab236387) at 1/2000 dilution
Lane 1 : HEK-293T (Human epithelial cell line from embryonic kidney transformed with large T antigen) cell lysate transfected with pCMV6-ENTRY control cDNA for 48 hrs
Lane 2 : HEK-293T cell lysate transfected with pCMV6-ENTRY GCH1 cDNA for 48 hrs
Lysates/proteins at 5 µg per lane.
Predicted band size: 28 kDa
Paraffin-embedded human skin tissue stained for GCH1 using ab236387 at 1/500 dilution in immunohistochemical analysis.
Paraffin-embedded human placenta tissue stained for GCH1 using ab236387 at 1/500 dilution in immunohistochemical analysis.
Paraffin-embedded human spleen carcinoma tissue stained for GCH1 using ab236387 at 1/500 dilution in immunohistochemical analysis.
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
ab236387 has been referenced in 2 publications.
- Tang Z et al. Exendin-4 reverses endothelial dysfunction in mice fed a high-cholesterol diet by a GTP cyclohydrolase-1/tetrahydrobiopterin pathway. Mol Med Rep 18:3350-3358 (2018). PubMed: 30085331
- Pickert G et al. Inhibition of GTP cyclohydrolase attenuates tumor growth by reducing angiogenesis and M2-like polarization of tumor associated macrophages. Int J Cancer 132:591-604 (2013). PubMed: 22753274