The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab116410 was purified by proprietary chromatographic techniques and filter sterilized.
Although stable at 4°C for 4 weeks, ab116410 should be stored desiccated below -18°C. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Please prevent freeze-thaw cycles.
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Please see notes section.
pH: 8.00 Constituents: 20% Glycerol, 0.32% Tris HCl, 0.02% DTT
6 pyruvoyl tetrahydrobiopterin synthase
6 pyruvoyl tetrahydropterin synthase
6 pyruvoyltetrahydropterin synthase
6-pyruvoyl tetrahydrobiopterin synthase
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.
Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.
Involvement in disease
Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]; 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.
Phosphorylation of Ser-19 is required for maximal enzyme activity.