Guanosine 5-triphosphate Cyclohydrolase1, ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C.

We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. If the expected concentration of the target is beyond the detection range of the kit, please contact our technical support team

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of GCH1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS744114 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Guanosine 5-triphosphate Cyclohydrolase1 (GCH1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing GCH1. The ELISA analytical biochemical technique of the MBS744114 kit is based on GCH1 antibody-GCH1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect GCH1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, GCH1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Principle of the Assay: GCH1 ELISA kit applies the competitive enzyme immunoassay technique utilizing a monoclonal anti-GCH1 antibody and an GCH1-HRP conjugate. The assay sample and buffer are incubated together with GCH1-HRP conjugate in pre-coated plate for one hour. After the incubation period, the wells are decanted and washed five times. The wells are then incubated with a substrate for HRP enzyme. The product of the enzyme-substrate reaction forms a blue colored complex. Finally, a stop solution is added to stop the reaction, which will then turn the solution yellow. The intensity of color is measured spectrophotometrically at 450nm in a microplate reader. The intensity of the color is inversely proportional to the GCH1 concentration since GCH1 from samples and GCH1-HRP conjugate compete for the anti-GCH1 antibody . Since the number of sites is limited, as more sites are occupied by GCH1 from the sample, fewer sites are left to bind GCH1-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The GCH1 concentration in each sample is interpolated from this standard curve.

Neurobiology

25,775 Da

GTP cyclohydrolase 1

GTP cyclohydrolase 1; GTP-CH-I; dystonia 14; GTP cyclohydrolase I; guanosine 5'-triphosphate cyclohydrolase I

GTP cyclohydrolase 1

DYT5; GCH; GTP-CH-I  [Similar Products]

GCH1_HUMAN

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

GCH1: 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. Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D); 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); 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. Belongs to the GTP cyclohydrolase I family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; EC 3.5.4.16; Cofactor and Vitamin Metabolism - folate biosynthesis

Chromosomal Location of Human Ortholog: 14q22.1-q22.2

Cellular Component: nucleoplasm; nuclear membrane; protein complex; cytoplasm; cytoplasmic vesicle; cytosol; nucleus

Molecular Function: GTP cyclohydrolase I activity; protein binding; protein homodimerization activity; GTP binding; zinc ion binding; GTP-dependent protein binding; calcium ion binding; coenzyme binding

Biological Process: tetrahydrobiopterin biosynthetic process; regulation of lung blood pressure; protein heterooligomerization; metabolic process; positive regulation of nitric-oxide synthase activity; response to lipopolysaccharide; response to pain; dopamine biosynthetic process; pteridine and derivative biosynthetic process; vasodilation; nitric oxide metabolic process; neuromuscular process controlling posture; tetrahydrofolate biosynthetic process; regulation of blood pressure; negative regulation of blood pressure; regulation of nitric-oxide synthase activity; nitric oxide biosynthetic process; protein homooligomerization

Disease: Hyperphenylalaninemia, Bh4-deficient, B; Dystonia, Dopa-responsive

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