PTS recombinant protein

PTS Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121671

• Gene Names: PTS; PTPS
• Purity: >85% as determined by SDS-PAGE
• Synonyms: PTS; PTS Protein; Human; Recombinant (His Tag); Human PTS/PTPS Protein (His Tag); PTPS Protein; 6-pyruvoyltetrahydropterin synthase; PTS recombinant protein

• Host: E Coli
• Purity/Purification: >85% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 40% Glycerol, pH, 7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Glu145

• Species: Human
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the mature form of human PTS (Q03393)(Met1-Glu145) was expressed with a polyhistide tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for PTS recombinant protein

Background: PTS(6-pyruvoyltetrahydropterin synthase) belongs to the PTPS family. It 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. PTS is involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. PTS also 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.

References

Ashida A, et al. (1994) A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics. 24:408-10. Ashida A, et al. (1993) cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. Biochem. Biophys Res Commun. 195:1386-93. Thoeny B, et al. (1992) Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun. 189:1437-43.

NCBI and Uniprot Product Information

• NCBI GI #: 4506331
• NCBI GeneID: 5805
• NCBI Accession #: NP_000308.1
• NCBI GenBank Nucleotide #: NM_000317.2
• UniProt Accession #: Q03393; Q8WVG8; B0YJ87
• Molecular Weight: 16,386 Da
• NCBI Official Full Name: 6-pyruvoyl tetrahydrobiopterin synthase
• NCBI Official Synonym Full Names: 6-pyruvoyltetrahydropterin synthase
• NCBI Official Symbol: PTS
• NCBI Official Synonym Symbols: PTPS
• NCBI Protein Information: 6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase
• UniProt Protein Name: 6-pyruvoyl tetrahydrobiopterin synthase
• Protein Family: PTS system EIIBC component
• UniProt Gene Name: PTS
• UniProt Synonym Gene Names: PTP synthase; PTPS
• UniProt Entry Name: PTPS_HUMAN

NCBI Description

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]

Uniprot Description

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