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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: GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I
Gene Aliases: Gch; Gch1; GTP-CH; GTPCH
UniProt ID: (Mouse) Q05915, (Rat) P22288
Entrez Gene ID: (Mouse) 14528, (Rat) 29244
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