Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
WB, ELISA, ICC/IFHost:
Applications: WB, IP
WB, ELISA, PA
Applications: WB, ELISA, PA
Applications: B/N, Ctrl
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
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