PTS (gene) explained

6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.^[1]

See also

• 6-pyruvoyltetrahydropterin synthase
• 6-Pyruvoyltetrahydropterin synthase deficiency

Further reading

• Werner ER . Biochemistry and function of pteridine synthesis in human and murine macrophages . Pathobiology . 59 . 4 . 276–9 . 1991 . 1883524 . 10.1159/000163662 . vanc. Werner-Felmayer G . Fuchs D . 3 . Hausen . A. . Reibnegger . R. . Yim . J.J. . Wachter . H. .
• Thöny B, Blau N . Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes . Hum. Mutat. . 10 . 1 . 11–20 . 1997 . 9222755 . 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P . 9085242 .
• Thöny B, Auerbach G, Blau N . Tetrahydrobiopterin biosynthesis, regeneration and functions . Biochem. J. . 347 . 1 . 1–16 . 2000 . 10727395 . 10.1042/0264-6021:3470001 . 1220924 .
• Thöny B, Leimbacher W, Bürgisser D, Heizmann CW . Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme . Biochem. Biophys. Res. Commun. . 189 . 3 . 1437–43 . 1993 . 1282802 . 10.1016/0006-291X(92)90235-D .
• Scriver CR, Clow CL, Kaplan P, Niederwieser A . Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes . Hum. Genet. . 77 . 2 . 168–71 . 1987 . 3308682 . 10.1007/BF00272386 . 19941299 .
• Oppliger T . 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 . 1996 . 7493990 . 10.1074/jbc.270.49.29498 . vanc. Thöny B . Nar H . 3 . Bürgisser . D . Huber . R . Heizmann . CW . Blau . N . free .
• Ashida A, Owada M, Hatakeyama K . A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia . Genomics . 24 . 2 . 408–10 . 1995 . 7698774 . 10.1006/geno.1994.1642 .
• Thöny B . Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase . Am. J. Hum. Genet. . 54 . 5 . 782–92 . 1994 . 8178819 . 1918260 . vanc. Leimbacher W . Blau N . 3 . Harvie . A . Heizmann . CW .
• Thöny B, Heizmann CW, Mattei MG . 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 . 1994 . 8188266 . 10.1006/geno.1994.1071 .
• Ashida A, Hatakeyama K, Kagamiyama H . cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase . Biochem. Biophys. Res. Commun. . 195 . 3 . 1386–93 . 1993 . 8216273 . 10.1006/bbrc.1993.2197 .
• Liu TT, Hsiao KJ . 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 . 1996 . 8707300 . 10.1007/s004390050213 . 31221986 .
• Kluge C . Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase . Eur. J. Biochem. . 240 . 2 . 477–84 . 1996 . 8841415 . 10.1111/j.1432-1033.1996.0477h.x . vanc. Brecevic L . Heizmann CW . 3 . Blau . Nenad . Thony . Beat .
• Hanihara T . 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study . Mov. Disord. . 12 . 3 . 408–11 . 1997 . 9159737 . 10.1002/mds.870120321 . vanc. Inoue K . Kawanishi C . 3 . Sugiyama . N. . Miyakawa . T. . Onishi . H. . Yamada . Y. . Osaka . H. . Kosaka . K. . 43917747 .
• Oppliger T . Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families . Hum. Mutat. . 10 . 1 . 25–35 . 1997 . 9222757 . 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L . vanc. Thöny B . Kluge C . 3 . Matasovic . Ana . Heizmann . Claus W. . Ponzone . Alberto . Spada . Marco . Blau . Nenad . 26721347 .
• Liu TT . Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency . Hum. Mutat. . 11 . 1 . 76–83 . 1998 . 9450907 . 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W . vanc. Hsiao KJ . Lu SF . 3 . Wu . Sheu-Jen . Wu . Kuei-Fen . Chiang . Szu-Hui . Liu . Xiao-Quing . Chen . Rui-Guan . Yu . Wei-Min . 24053351 . free .
• Scherer-Oppliger T . 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 . 1999 . 10220141 . 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C . vanc. Matasovic A . Laufs S . 3 . Levy . Harvey L. . Quackenbush . Elisabeth J. . Blau . Nenad . Thöny . Beat . 7911762 . free.
• Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B . Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II . J. Biol. Chem. . 274 . 44 . 31341–8 . 1999 . 10531334 . 10.1074/jbc.274.44.31341 . free .
• Kim ST, Lim DS, Canman CE, Kastan MB . Substrate specificities and identification of putative substrates of ATM kinase family members . J. Biol. Chem. . 274 . 53 . 37538–43 . 2000 . 10608806 . 10.1074/jbc.274.53.37538 . free .

Notes and References

1. Web site: Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase.