6-Pyruvoyltetrahydropterin Synthase (PTPS) Human Recombinant Protein

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]

PTS: 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. 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. Belongs to the PTPS family.

Protein type: Lyase; Mitochondrial; Cofactor and Vitamin Metabolism - folate biosynthesis; EC 4.2.3.12

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: mitochondrion; cytoplasm; cytosol

Molecular Function: identical protein binding; protein homodimerization activity; metal ion binding; 6-pyruvoyltetrahydropterin synthase activity

Biological Process: amino acid metabolic process; tetrahydrobiopterin biosynthetic process; central nervous system development; regulation of nitric-oxide synthase activity; nitric oxide metabolic process

Disease: Hyperphenylalaninemia, Bh4-deficient, A