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6-Pyruvoyltetrahydropterin Synthase (PTS)

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PTPS

6-Pyruvoyltetrahydropterin Synthase (PTS)
CCC H278
HGNC 9689
MGI 1338783
PubMed 2656673
RGD 68367
UniProt Q03393
Wiki PTS
The PTS gene encodes 6-pyruvoyl-tetrahydropterin synthase (EC 4.6.1.10), an enzyme involved in the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for aromatic amino acid hydroxylases, such as hepatic phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), and tryptophan hydroxylase (TPH1), as well as for all 3 forms of nitric oxide synthase. The deduced 145-residue protein has a molecular mass of 16.4 kD. The human amino acid sequence showed 82% identity with the rat liver sequence. Expression of the cDNA in E. coli yielded the active enzyme and showed immunoreactivity with antibodies against the rat liver PTS.PTS gene spans about 8 kb and contains 6 exons, as revealed by DNA sequence analysis.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 6-Pyruvoyltetrahydropterin Synthase (PTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) CLIA Kit Customized Service Offer
n/a ELISA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 6-Pyruvoyltetrahydropterin Synthase (PTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) CLIA Kit Customized Service Offer
n/a ELISA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant 6-Pyruvoyltetrahydropterin Synthase (PTS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to 6-Pyruvoyltetrahydropterin Synthase (PTS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) CLIA Kit Customized Service Offer
n/a ELISA Kit for 6-Pyruvoyltetrahydropterin Synthase (PTS) ELISA Kit Customized Service Offer
  1. "Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme."Biochem. Biophys. Res. Commun. 189:1437-1443(1992) [PubMed] [Europe PMC] [Abstract]
  2. "cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase."Biochem. Biophys. Res. Commun. 195:1386-1393(1993) [PubMed] [Europe PMC] [Abstract]
  3. "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia."Genomics 24:408-410(1994) [PubMed] [Europe PMC] [Abstract]
  4. "Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase."Eur. J. Biochem. 240:477-484(1996) [PubMed] [Europe PMC] [Abstract]
  5. "Genomic structure of 6-pyruvoyl-tetrahydropterin synthase gene and a T/C polymorphism detected in Chinese."J. Biomed. Lab. Sci. 10:39-47(1998)
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  9. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  10. "Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II."J. Biol. Chem. 274:31341-31348(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes."Hum. Mutat. 10:11-20(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase."Am. J. Hum. Genet. 54:782-792(1994) [PubMed] [Europe PMC] [Abstract]
  13. "Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity."J. Biol. Chem. 270:29498-29506(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency."Hum. Genet. 98:313-316(1996) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families."Hum. Mutat. 10:25-35(1997) [PubMed] [Europe PMC] [Abstract]
  16. "6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study."Mov. Disord. 12:408-411(1997) [PubMed] [Europe PMC] [Abstract]
  17. "Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency."Hum. Mutat. 11:76-83(1998) [PubMed] [Europe PMC] [Abstract]
  18. "Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia."Clin. Chem. 45:2102-2108(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia."Hum. Mutat. 13:286-289(1999) [PubMed] [Europe PMC] [Abstract]
  20. "Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS."Hum. Mutat. 16:54-60(2000) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency."Eur. J. Pediatr. 160:267-276(2001) [PubMed] [Europe PMC] [Abstract]