This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin 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.
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Protein Aliases: dystonia 14; DYT5; GCH; GCH1; GTP cyclohydrolase 1; GTP cyclohydrolase 1 (dopa-responsive dystonia); GTP cyclohydrolase I; GTP-CH-1; GTP-CH-I; GTPCH1; guanosine 5'-triphosphate cyclohydrolase I
Gene Aliases: DYT14; DYT5; DYT5a; GCH; GCH1; GTP-CH-1; GTPCH1; HPABH4B
UniProt ID: (Human) P30793
Entrez Gene ID: (Human) 2643
Molecular Function: hydrolase