PTS (gene)
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PTS (gene)
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| 6-pyruvoyltetrahydropterin synthase | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PTS; PTPS | ||||||||||
| External IDs | OMIM: 261640 MGI: 1338783 HomoloGene: 268 GeneCards: PTS Gene | ||||||||||
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| RNA expression pattern | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 5805 | 19286 | |||||||||
| Ensembl | ENSG00000150787 | ENSMUSG00000032067 | |||||||||
| UniProt | Q03393 | Q9R1Z7 | |||||||||
| RefSeq (mRNA) | NM_000317 | NM_011220 | |||||||||
| RefSeq (protein) | NP_000308 | NP_035350 | |||||||||
| Location (UCSC) | Chr 11: 111.6 - 111.61 Mb |
Chr 9: 50.27 - 50.28 Mb |
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| PubMed search | |||||||||||
6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.
See also
- 6-pyruvoyltetrahydropterin synthase
- 6-Pyruvoyltetrahydropterin synthase deficiency
References
- ^ “Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase”. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5805.
Further reading
- Werner ER, Werner-Felmayer G, Fuchs D, et al. (1991). “Biochemistry and function of pteridine synthesis in human and murine macrophages.”. Pathobiology 59 (4): 276–9. doi:. PMID 1883524.
- Thöny B, Blau N (1997). “Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.”. Hum. Mutat. 10 (1): 11–20. doi:. PMID 9222755.
- Thöny B, Auerbach G, Blau N (2000). “Tetrahydrobiopterin biosynthesis, regeneration and functions.”. Biochem. J. 347 Pt 1: 1–16. doi:. PMID 10727395.
- Thöny B, Leimbacher W, Bürgisser D, Heizmann CW (1993). “Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.”. Biochem. Biophys. Res. Commun. 189 (3): 1437–43. doi:. PMID 1282802.
- Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). “Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.”. Hum. Genet. 77 (2): 168–71. PMID 3308682.
- Oppliger T, Thöny B, Nar H, et al. (1996). “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 (49): 29498–506. doi:. PMID 7493990.
- Ashida A, Owada M, Hatakeyama K (1995). “A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.”. Genomics 24 (2): 408–10. doi:. PMID 7698774.
- Thöny B, Leimbacher W, Blau N, et al. (1994). “Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.”. Am. J. Hum. Genet. 54 (5): 782–92. PMID 8178819.
- Thöny B, Heizmann CW, Mattei MG (1994). “Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22.”. Genomics 19 (2): 365–8. doi:. PMID 8188266.
- Ashida A, Hatakeyama K, Kagamiyama H (1993). “cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase.”. Biochem. Biophys. Res. Commun. 195 (3): 1386–93. doi:. PMID 8216273.
- Liu TT, Hsiao KJ (1996). “Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.”. Hum. Genet. 98 (3): 313–6. doi:. PMID 8707300.
- Kluge C, Brecevic L, Heizmann CW, et al. (1996). “Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.”. Eur. J. Biochem. 240 (2): 477–84. doi:. PMID 8841415.
- Hanihara T, Inoue K, Kawanishi C, et al. (1997). “6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.”. Mov. Disord. 12 (3): 408–11. doi:. PMID 9159737.
- Oppliger T, Thöny B, Kluge C, et al. (1997). “Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.”. Hum. Mutat. 10 (1): 25–35. doi:. PMID 9222757.
- Liu TT, Hsiao KJ, Lu SF, et al. (1998). “Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.”. Hum. Mutat. 11 (1): 76–83. doi:. PMID 9450907.
- Scherer-Oppliger T, Matasovic A, Laufs S, et al. (1999). “Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.”. Hum. Mutat. 13 (4): 286–9. doi:. PMID 10220141.
- Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B (1999). “Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.”. J. Biol. Chem. 274 (44): 31341–8. doi:. PMID 10531334.
- Kim ST, Lim DS, Canman CE, Kastan MB (2000). “Substrate specificities and identification of putative substrates of ATM kinase family members.”. J. Biol. Chem. 274 (53): 37538–43. doi:. PMID 10608806.
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Retrieved from “http://en.wikipedia.org/wiki/PTS_(gene)”
Categories: Human proteins | Chromosome 11 gene stubs
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