GTP cyclohydrolase 1, Polyclonal Antibody

dystonia 14; DYT 5; DYT14; DYT5a; GCH; GTP CH 1; GTP cyclohydrolase 1 (dopa responsive dystonia); Guanosine 5' triphosphate cyclohydrolase I; HPABH4B antibody

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

Polyclonal

Rabbit

FITC-Conjugated

0.68-0.98 ug/ul in antibody stabilization buffer (lot specific)

-20 degree C for long term storage

Small volumes of anti-GTP antibody 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.

FITC-Conjugated GTP cyclohydrolase 1 Antibody N-epitope
Positively regulates nitric oxide synthesis in endothelial cells. Invovled in dopamine synthesis and pain sensitivity and persistence.

ELISA (EIA), Western Blot (WB)

Dot Blot: 1:20,000
ELISA: 1:20,000
Western Blot: 1:500-1:750

27,014 Da

GTP cyclohydrolase 1

GTP cyclohydrolase 1

GTP cyclohydrolase 1

Gch; GTP-CH-I  [Similar Products]

GCH1_MOUSE

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; Cofactor and Vitamin Metabolism - folate biosynthesis; EC 3.5.4.16

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

Molecular Function: calcium ion binding; catalytic activity; coenzyme binding; GTP binding; GTP cyclohydrolase I activity; GTP-dependent protein binding; hydrolase activity; metal ion binding; nucleotide binding; protein homodimerization activity; translation initiation factor binding; zinc ion binding

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

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