PTS

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6-pyruvoyltetrahydropterin synthase
Identifiers
Symbols	PTS; FLJ97081; PTPS
External IDs	OMIM: 612719 MGI: 1338783 HomoloGene: 268 GeneCards: PTS Gene
EC number	4.2.3.12
Gene Ontology Molecular function • 6-pyruvoyltetrahydropterin synthase activity • lyase activity • identical protein binding • protein homodimerization activity • metal ion binding Cellular component • cytoplasm • mitochondrion Biological process • cellular amino acid metabolic process • tetrahydrobiopterin biosynthetic process • central nervous system development Sources: Amigo / QuickGO
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_011220.2
RefSeq (protein)	NP_000308	NP_035350.1
Location (UCSC)	Chr 11: 112.1 – 112.14 Mb	Chr 9: 50.33 – 50.34 Mb
PubMed search	[1]	[2]

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

References

1. ^ "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:10.1159/000163662. 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:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755. 
• Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". Biochem. J. 347 (1): 1–16. doi:10.1042/0264-6021:3470001. PMC 1220924. PMID 10727395. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1220924. 
• 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:10.1016/0006-291X(92)90235-D. 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. doi:10.1007/BF00272386. 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:10.1074/jbc.270.49.29498. 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:10.1006/geno.1994.1642. 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. PMC 1918260. PMID 8178819. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1918260. 
• 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:10.1006/geno.1994.1071. 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:10.1006/bbrc.1993.2197. 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:10.1007/s004390050213. 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:10.1111/j.1432-1033.1996.0477h.x. 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:10.1002/mds.870120321. 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:10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L. 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:10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W. 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:10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C. 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:10.1074/jbc.274.44.31341. 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:10.1074/jbc.274.53.37538. PMID 10608806. 

This article on a gene on chromosome 11 is a stub. You can help Wikipedia by expanding it.v · d · e

v · d · e Metabolism of vitamins, coenzymes, and cofactors Fat soluble vitamins Vitamin A Retinol binding protein Vitamin E Alpha-tocopherol transfer protein Vitamin D liver (Sterol 27-hydroxylase or CYP27A1) · renal (25-Hydroxyvitamin D3 1-alpha-hydroxylase or CYP27B1) · degradation (1,25-Dihydroxyvitamin D3 24-hydroxylase or CYP24A1) Vitamin K Vitamin K epoxide reductase Water soluble vitamins Thiamine (B1) Thiamine diphosphokinase Niacin (B3) Indoleamine 2,3-dioxygenase · Formamidase Pantothenic acid (B5) Pantothenate kinase Folic acid (B9) Dihydropteroate synthase · Dihydrofolate reductase · Serine hydroxymethyltransferase Methylenetetrahydrofolate reductase Vitamin B12 MMAA · MMAB · MMACHC · MMADHC Vitamin C L-gulonolactone oxidase Riboflavin (B2) Riboflavin kinase Nonvitamin cofactors Tetrahydrobiopterin GTP cyclohydrolase I · 6-pyruvoyltetrahydropterin synthase · Sepiapterin reductase PCBD1 · PTS · QDPR Molybdenum cofactor MOCS1 · MOCS2 · MOCS3 · GPHN M: NUT cof, enz, met noco, nuvi, sysi/epon, met drug(A8/11/12)

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