BackgroundThis 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.
DescriptionGCH1 Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS containing 50% glycerol, preserved with proclin300 or sodium azide, pH 7.3.
SpecificityHuman, Mouse, Rat
IsotypeIgG
Uniprot IDP30793
PurificationAffinity Purified
ImmunogenRecombinant protein (or fragment). Please contact EpigenTek for more information.
StorageStore at -20°C. Avoid freeze / thaw cycles.
Alternative NamesGCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1; GCH1
ApplicationWB, IF/ICC, ELISA; Recommended dilution: WB, 1:500 - 1:1000; IF/ICC, 1:50 - 1:200; ELISA, Recommended starting concentration is 1 µg/mL. Please optimize the concentration based on your specific assay requirements.