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Rabbit Anti-GCH1 Polyclonal Antibody#abs139066

Description

Catalog-specification	Delivery time	USD price
abs139066-100ug	1-2 Weeks	301.0
abs139066-50ug	1-2 Weeks	201.0

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Overview
catalog	abs139066
Other names	DYT14, also known as Dystonia 14, is a form of dystonia that is caused by mutations in the GCH1 gene. This gene encodes for the enzyme guanosine triphosphate cyclohydrolase 1 (GTPCH1), which plays a crucial role in the synthesis of the neurotransmitter dopamine. GCH1 mutations result in a deficiency of GTPCH1 enzyme activity, leading to a reduced production of dopamine. This dopamine deficiency disrupts the normal functioning of the basal ganglia, a region of the brain involved in movement control. Affected individuals with DYT14 typically present with symptoms of dopa-responsive dystonia (DRD), a movement disorder characterized by abnormal muscle contractions and postures. These symptoms usually manifest during childhood or adolescence and tend to worsen over time. Individuals with DYT14 may experience intermittent or continuous episodes of dystonia, which can affect various body parts, including the limbs, trunk, and neck. These episodes can be triggered by physical exertion, stress, or emotional excitement. The diagnosis of DYT14 is based on clinical evaluation, genetic testing, and the response to dopamine replacement therapy, such as levodopa. Treatment for DYT14 primarily involves the use of medications that aim to increase dopamine levels in the brain. Other treatment options, including deep brain stimulation, may be considered for individuals who do not respond well to medication. In summary, DYT14, or dystonia 14, is a form of dopa-responsive dystonia caused by mutations in the GCH1 gene. This condition leads to a deficiency of the GTPCH1 enzyme and a subsequent reduction in dopamine production. Early diagnosis and appropriate treatment can help manage the symptoms and improve the quality of life for individuals with DYT14.
Source	Rabbit
Specificity	The GCH1 Antibody is capable of efficiently detecting the total levels of endogenous GCH1. The content generated based on this, by rearranging the original text information, would remain true to the essence of the original statement while being presented in a completely different manner.
Species Reactivity	Human;Mouse;Rat
Predictive reaction species	Pig;Rabbit;Sheep;Dog;Bovine
Antigen	GCH1
Application	WB 1:1000-3000, ELISA(peptide) 1:20000-1:40000
Immunogen	A synthesized peptide derived from human GCH1.
MW	28 kDa
Properties
Concentration	1mg/ml
purification	SulfoLink™ Coupling Resin was utilized in the purification process of the antiserum through peptide affinity chromatography.
Clonality	Polyclonal Antibody
Stability & Storage	To maintain its quality, store it at a temperature of -20 °C for a duration of one year. It is important to avoid subjecting it to repeated freeze/thaw cycles.
Storage buffer	Our Rabbit IgG is formulated in phosphate buffered saline with a pH of 7.4. It contains 150mM NaCl, 0.02% sodium azide, and 50% glycerol. To maintain its stability, store it at -20 °C. The product will remain stable for 12 months from the date of receipt.
Target
Background	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.
Tissue specificity	In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
Posttranslational modification	Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
Celluar localization	Cytosol;Nucleus;
UniPort	P30793