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Applications | Tested Dilution | Publications |
---|---|---|
Western Blot (WB) |
1:1,000-1:3,000 | - |
Product Specifications | |
---|---|
Species Reactivity |
Rat, Human, Mouse |
Host/Isotype |
Rabbit / IgG |
Class |
Polyclonal |
Type |
Antibody |
Immunogen |
A synthesized peptide derived from human GCH1(Accession P30793), corresponding to amino acid residues S46-A73. |
Conjugate |
Unconjugated |
Form |
Liquid |
Concentration |
1 mg/mL |
Purification |
Affinity chromatography |
Storage buffer |
PBS, pH 7.4, with 50% glycerol |
Contains |
0.02% sodium azide |
Storage conditions |
-20°C |
RRID |
AB_2853197 |
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.
Protein Aliases: dystonia 14; GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; guanosine 5'-triphosphate cyclohydrolase I
Gene Aliases: DYT14; DYT5; DYT5a; GCH; GCH1; GTP-CH; GTP-CH-1; GTPCH; GTPCH1; HPABH4B
UniProt ID: (Human) P30793, (Mouse) Q05915, (Rat) P22288
Entrez Gene ID: (Human) 2643, (Mouse) 14528, (Rat) 29244
Molecular Function:
hydrolase
metabolite interconversion enzyme
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