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Official Full Name
6-pyruvoyltetrahydropterin synthase
Background
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia.
Synonyms
PTS; 6-pyruvoyltetrahydropterin synthase; 6-pyruvoyl tetrahydrobiopterin synthase; PTPS; 6 pyruvoyl tetrahydrobiopterin synthase; 6 pyruvoyl tetrahydropterin synthase; 6 pyruvoyltetrahydropterin synthase; EC 4.2.3.12; FLJ97081; OTTHUMP00000235385; PTP synthase; PTPS_HUMAN; FLJ97081, PTPS, PTS; zgc:162276

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