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, Oct 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PTS-20-RE | 20 (40 μL) | 200 μL |  |
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| PTS-20-OR | 20 (40 μL) | 200 μL |  |
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| PTS-20-GO | 20 (40 μL) | 200 μL |  |
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| PTS-20-GR | 20 (40 μL) | 200 μL |  |
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| PTS-20-AQ | 20 (40 μL) | 200 μL |  |
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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, Oct 2008]
Gene Symbol : PTS
Gene Name : 6-pyruvoyltetrahydropterin synthase
Chromosome : CHR 11: 112,226,364-112,233,972
Locus : 11q23.1
Alt. Genes : FEM1B
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