(redirected from 6-Pyruvoyltetrahydropterin Synthase)
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6-PTS6-Pyruvoyltetrahydropterin Synthase
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Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyltetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
[1] Nonstandard abbreviations: B[H.sub.4], tetrahydrobiopterin; GTPCH, GTP cyclohydrolase 1; IFN-[gamma], interferon-[gamma]; TNF-[alpha], tumor necrosis factor-[alpha]; PTPS, 6-pyruvoyltetrahydropterin synthase; SR, sepiapterin reductase; DHPR, dihydropteridine reductase; DRD, Dopa-responsive dystonia; and CSF, cerebrospinal fluid.
Human 6-pyruvoyltetrahydropterin synthase. cDNA cloning and heterologous expression of the recombinant enzyme.