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PTS

6-pyruvoyltetrahydropterin synthase

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.

Gene Name:	6-pyruvoyltetrahydropterin synthase
Synonyms:	PTS, PTP synthase, PTPS
Target Sequences:	NM_000317 NP_000308.1 Q03393

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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

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