GCH1 blocking peptide

GeneTex

GCH1 blocking peptide

9

Research Use Only

GCH1

GTP cyclohydrolase 1

DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GTP cyclohydrolase 1, GTP cyclohydrolase I, GTP-CH-I, dystonia 14, guanosine 5'-triphosphate cyclohydrolase I

This 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. [provided by RefSeq, Jul 2008]

-20°C or -80°C,2°C to 8°C

41116100

Human