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|Tested species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||KLH conjugated synthetic peptide between 39-67 amino acids from the N-terminal region of human GCH1|
|Purification||Antigen affinity chromatography|
|Contains||0.09% sodium azide|
|Storage Conditions||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C|
|Tested Applications||Dilution *|
|Western Blot (WB)||1:1000|
* Suggested working dilutions are given as a guide only. It is recommended that the user titrate the product for use in their own experiment using appropriate negative and positive controls.
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
dystonia 14; DYT14; DYT5; DYT5a; GCH; GTP cyclohydrolase I; GTP-CH-1; GTP-CH-I; GTPCH1; guanosine 5'-triphosphate cyclohydrolase I; HPABH4B
DYT14; DYT5; DYT5a; GCH; GCH1; GTP-CH-1; GTPCH1; HPABH4B