GCH1 Proteins

Protein Information

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.

Synonyms

dystonia 14; DYT14; DYT5; DYT5a; GCH; Gch1; GTP cyclohydrolase 1; GTP cyclohydrolase I; GTPCH; GTP-CH; GTPCH1; GTP-CH-1; GTP-CH-I; guanosine 5'-triphosphate cyclohydrolase I; HPABH4B