PTS, Official Symbol PTSprovided by HGNC Official Full Name 6-pyruvoyltetrahydropterin synthaseprovided by HGNC Primary source HGNC:HGNC:9689 See related Ensembl:ENSG00000150787 MIM:612719; AllianceGenome:HGNC:9689 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PTPS 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, Oct 2008] Expression Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues See more Orthologs mouse all