Showing Protein 6-pyruvoyl tetrahydrobiopterin synthase (HMDBP00435)

• 5672

1. PTP synthase
2. PTPS

• Dopa-responsive dystonia
• Folate biosynthesis
• Hyperphenylalaniemia due to guanosine triphosphate cyclohydrolase deficiency
• Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (ptps)
• Hyperphenylalaninemia due to dhpr-deficiency
• Pterine Biosynthesis
• Segawa syndrome
• Sepiapterin reductase deficiency
• tetrahydrobiopterin biosynthesis

>438 bp
ATGAGCACGGAAGGTGGTGGCCGTCGCTGCCAGGCACAAGTGTCCCGCCGCATCTCCTTC
AGCGCGAGCCACCGATTGTACAGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTT
GGGAAATGCAACAATCCAAATGGCCATGGGCACAATTATAAAGTTGTGGTGACAGTACAT
GGAGAGATTGACCCTGCTACGGGAATGGTTATGAATCTGGCTGATCTCAAAAAATATATG
GAGGAGGCGATTATGCAGCCCCTTGATCATAAGAATCTGGATATGGATGTGCCATACTTT
GCAGATGTGGTGAGCACGACTGAAAATGTAGCTGTTTATATCTGGGACAACCTCCAGAAA
GTTCTTCCTGTAGGAGTTCTTTATAAAGTAAAAGTATACGAAACTGACAATAATATTGTG
GTTTATAAAGGAGAATAG

• PTPS (PF01242 )

>6-pyruvoyl tetrahydrobiopterin synthase
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVH
GEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQK
VLPVGVLYKVKVYETDNNIVVYKGE

• 3I2B

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3. Thony B, Leimbacher W, Burgisser D, Heizmann CW: Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun. 1992 Dec 30;189(3):1437-43. [PubMed:1282802 ]
4. Ashida A, Hatakeyama K, Kagamiyama H: cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. Biochem Biophys Res Commun. 1993 Sep 30;195(3):1386-93. [PubMed:8216273 ]
5. Ashida A, Owada M, Hatakeyama K: A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics. 1994 Nov 15;24(2):408-10. [PubMed:7698774 ]
6. Kluge C, Brecevic L, Heizmann CW, Blau N, Thony B: Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem. 1996 Sep 1;240(2):477-84. [PubMed:8841415 ]
7. Scherer-Oppliger T, Leimbacher W, Blau N, Thony B: Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem. 1999 Oct 29;274(44):31341-8. [PubMed:10531334 ]
8. Thony B, Blau N: Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat. 1997;10(1):11-20. [PubMed:9222755 ]
9. Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW: Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet. 1994 May;54(5):782-92. [PubMed:8178819 ]
10. Oppliger T, Thony B, Nar H, Burgisser D, Huber R, Heizmann CW, Blau N: 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. 1995 Dec 8;270(49):29498-506. [PubMed:7493990 ]
11. 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. 1996 Sep;98(3):313-6. [PubMed:8707300 ]
12. Oppliger T, Thony B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N: Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Hum Mutat. 1997;10(1):25-35. [PubMed:9222757 ]
13. Hanihara T, Inoue K, Kawanishi C, Sugiyama N, Miyakawa T, Onishi H, Yamada Y, Osaka H, Kosaka K, Iwabuchi K, Owada M: 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord. 1997 May;12(3):408-11. [PubMed:9159737 ]
14. Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM: Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Hum Mutat. 1998;11(1):76-83. [PubMed:9450907 ]
15. Romstad A, Guldberg P, Blau N, Guttler F: Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. Clin Chem. 1999 Dec;45(12):2102-8. [PubMed:10585341 ]
16. Scherer-Oppliger T, Matasovic A, Laufs S, Levy HL, Quackenbush EJ, Blau N, Thony B: Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat. 1999;13(4):286-9. [PubMed:10220141 ]
17. Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thony B: Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. Hum Mutat. 2000;16(1):54-60. [PubMed:10874306 ]
18. Dudesek A, Roschinger W, Muntau AC, Seidel J, Leupold D, Thony B, Blau N: Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr. 2001 May;160(5):267-76. [PubMed:11388593 ]