Aliases for PTS Gene
External Ids for PTS Gene
Previous GeneCards Identifiers for PTS Gene
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]
GeneCards Summary for PTS Gene
PTS (6-Pyruvoyltetrahydropterin Synthase) is a Protein Coding gene. Diseases associated with PTS include Hyperphenylalaninemia, Bh4-Deficient, A and Tetrahydrobiopterin Deficiency. Among its related pathways are eNOS activation and regulation and Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 6-pyruvoyltetrahydropterin synthase activity.
UniProtKB/Swiss-Prot Summary for PTS Gene
Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.