Product nameAnti-GCH1 antibody
See all GCH1 primary antibodies
DescriptionRabbit polyclonal to GCH1
Tested applicationsSuitable for: WB, IPmore details
Species reactivityReacts with: Mouse, Human
Synthetic peptide within Human GCH1 aa 50-100. The exact sequence is proprietary.
Database link: P30793
- WB: HeLa, HEK-293T, Jurkat, TCMK-1 and NIH/3T3 whole cell lysates. IP: Jurkat whole cell lysate.
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C. Avoid freeze / thaw cycle.
Storage bufferPreservative: 0.09% Sodium azide
Constituent: Tris citrate/phosphate
pH 7 to 8
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab264392 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 - 1/10000. Predicted molecular weight: 28 kDa.|
|IP||Use at 2-10 µg/mg of lysate.|
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 (ab264392) at 0.1 µg/ml
Lane 1 : HeLa (human epithelial cell line from cervix adenocarcinoma) whole cell lysate
Lane 2 : HEK-293T (human epithelial cell line from embryonic kidney transformed with large T antigen) whole cell lysate
Lane 3 : Jurkat (human T cell leukemia cell line from peripheral blood) whole cell lysate
Lane 4 : TCMK-1 (mouse kidney epithelial cell line) whole cell lysate
Lane 5 : NIH/3T3 (mouse embryo fibroblast cell line) whole cell lysate
Lysates/proteins at 50 µg per lane.
Developed using the ECL technique.
Predicted band size: 28 kDa
Exposure time: 10 seconds
Lysates prepared using NETN lysis buffer.
GCH1 was immunoprecipitated from Jurkat (human T cell leukemia cell line from peripheral blood) whole cell lysate (1.0 mg per IP reaction; 20% of IP loaded) with ab264392 at 6 µg per reaction. Western blot was performed from the immunoprecipitate using ab264392 at 1 µg/ml.
Lane 1: ab264392 IP in Jurkat whole cell lysate.
Lane 2: Control IgG IP in Jurkat whole cell lysate.
Detection: Chemiluminescence with an exposure time of 30 seconds.
Lysates prepared using NETN lysis buffer.
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.
ab264392 has not yet been referenced specifically in any publications.