Description
Product Characteristics:
GTP cyclohydrolase I (also designated dopa-responsive dystonia) catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) biosynthesis. Tetrahydrobiopterin is an essential cofactor for 3 aromatic amino acid monooxygenases: phenylalanine, tyrosine, and tryptophan hydroxylases. Animals can synthesize tetrahydrobiopterin in vivo from GTP through several enzymatic reactions.
Subcellular location: Cytoplasm, Nucleus
Synonyms: GTP-CH-1, DYT 5, DYT5, GCH 1, GCH, GCH1, GTP CH 1, GTP CH I, GTP cyclohydrolase 1 dopa responsive dystonia, GTP cyclohydrolase 1, GTP cyclohydrolase I, GTPCH 1, GTPCH1, Guanosine 5' triphosphate cyclohydrolase I.
Target Information: 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]