Hu, Mu, RtApplications:
Species: Hu, Mu, Rt
Applications: ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
Applications: ELISA, ICC/IF, S-ELISA
Host: Mouse Monoclonal
WB, ELISA, PA, AP, Enzyme Activity
Applications: WB, ELISA, PA, PAGE, AP
GCH1 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.
Bioinformatics Tool for GCH1
Discover related pathways, diseases and genes to GCH1. Need help? Read the Bioinformatics Tool Guide
for instructions on using this tool.