Entrez gene ID | | 5805 |
Official gene symbol | | PTS |
Full name | | 6-pyruvoyltetrahydropterin synthase |
Aliases | | ,FLJ97081,PTPS, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q22.3-q23.3 |
Gene position | | 112097088 - 112104696 Map Viewer |
Gene orientation | | plus |
Gene size | | 7609 bp |
Gene sequence |
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OMIM ID | | 612719 |
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