Western blot analysis of mouse kidney lysates (Lane 1, 40 ug) and recombinant protein (Lane 2 is 1000 ng; Lane 3 is 500 ng) with PTS monoclonal antibody, clone AT2B2 (Cat # MAB9721) at 1 : 500 dilution. Proteins were visualized using a goat anti-mouse secondary antibody conjugated to HRP and an ECL detection system.
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