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PTS Protein, Antibody, ELISA Kit, cDNA Clone

PTS Related Areas

PTS Related Pathways

PTS Related Product

    PTS Summary & Protein Information

    PTS Background

    Gene Summary: The enzyme encoded by PTS 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 PTS gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
    General information above from NCBI
    Catalytic activity: 7,8-dihydroneopterin 3'-triphosphate = 6- pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate.
    Cofactor: Binds 1 zinc ion per subunit (By similarity).
    Subunit structure: Homohexamer formed of two homotrimers in a head to head fashion.
    Post-translational: Phosphorylation of Ser-19 is required for maximal enzyme activity.
    Involvement in disease: Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the PTPS family.
    General information above from UniProt

    PTS(6-pyruvoyltetrahydropterin synthase) belongs to the PTPS family. It 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. PTS is involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. PTS also catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin. Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A), also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.

    PTS Alternative Name

    6-pyruvoyltetrahydropterin synthase,PTS,PTPS,6-pyruvoyl tetrahydrobiopterin synthase,PTP synthase, [human]
    6-pyruvoyl-tetrahydropterin synthase,Pts,PTPS,6-pyruvoyl tetrahydrobiopterin synthase,PTP synthase, [mouse]

    PTS Related Studies

  • Ashida A, et al. (1994) A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics. 24:408-10.
  • Ashida A, et al. (1993) cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. Biochem. Biophys Res Commun. 195:1386-93.
  • Thoeny B, et al. (1992) Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun. 189:1437-43.
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