GCH1
Reactivity: Human
WB, ELISA
Host: Mouse
Polyclonal
unconjugated
Application Notes
Peptide ELISA: 1/16000. Western Blot: 1 - 3 μg/mL. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
GCH1 is a member of the GTP cyclohydrolase family. It 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.Synonyms: DYT5, GCH, GTP cyclohydrolase I, GTP-CH-I