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Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000317 Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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RefSeq Version NM_000317.2, 164663900
Length 948 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.
Product 6-pyruvoyl tetrahydrobiopterin synthase
Comment

Summary: The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008].

RefSeq NP_000308.1
CDS 80..517
Misc Feature(1)110..514
Misc Feature(2)110..514
Misc Feature(3)order(110..112,266..298,395..415,503..505,509..511)
Misc Feature(4)order(116..118,122..124,128..130,134..136,239..241,
Misc Feature(5)134..136
Misc Feature(6)134..136
Misc Feature(7)134..136
Misc Feature(8)order(149..151,155..157,206..208,224..226,230..232,
Exon (1)1..162
Gene:PTS
Gene Synonym:PTPS
Exon (2)163..242
Gene:PTS
Gene Synonym:PTPS
Exon (3)243..265
Gene:PTS
Gene Synonym:PTPS
Exon (4)266..322
Gene:PTS
Gene Synonym:PTPS
Exon (5)323..393
Gene:PTS
Gene Synonym:PTPS
Exon (6)394..935
Gene:PTS
Gene Synonym:PTPS
Translation MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVH GEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQK VLPVGVLYKVKVYETDNNIVVYKGE
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Position Chain Variation Link
68+a, gdbSNP:201697689
96+g, tdbSNP:138154701
125+c, tdbSNP:104894274
153+a, gdbSNP:104894273
177+dbSNP:
177+a, tdbSNP:201575138
218+a, gdbSNP:104894278
234+a, gdbSNP:104894275
245+dbSNP:
245+a, gdbSNP:104894277
265+a, gdbSNP:189051075
271+dbSNP:
271+c, tdbSNP:201156784
274+c, tdbSNP:143472856
295+c, tdbSNP:200279736
296+a, cdbSNP:199748848
301+c, tdbSNP:201388369
338+dbSNP:
338+c, tdbSNP:104894276
365+a, gdbSNP:104894280
376+a, cdbSNP:145882709
388+g, tdbSNP:11541630
391+a, gdbSNP:148185068
396+dbSNP:
396+c, tdbSNP:200712908
421+c, gdbSNP:17851590
426+a, gdbSNP:104894279
446+c, tdbSNP:141163668
449+g, tdbSNP:150726932
451+a, tdbSNP:139969809
478+c, tdbSNP:199603175
484+c, tdbSNP:59731976
499+g, tdbSNP:146364246
555+c, g, tdbSNP:200010468
577..578+, cdbSNP:35196884
577+c, tdbSNP:149320135
577+, tdbSNP:112454369
613+g, tdbSNP:3211484
767+a, cdbSNP:1139452
768+a, cdbSNP:1126546
908..911+, aaagdbSNP:201791923
916+a, gdbSNP:191597540
Gene SymbolPTS
Gene SynonymPTPS
Chromosome11
Locus Map11q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000317 Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. In-stock $248.00 $199.00 10
Title Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations .
Author Chiu,Y.H., Chang,Y.C., Chang,Y.H., Niu,D.M., Yang,Y.L., Ye,J., Jiang,J., Okano,Y., Lee,D.H., Pangkanon,S., Kuptanon,C., Hock,N.L., Chiong,M.A., Cavan,B.V., Hsiao,K.J. and Liu,T.T.
Journal J. Hum. Genet. 57 (2), 145-152 (2012)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Examination of tetrahydrobiopterin pathway genes in autism .
Author Schnetz-Boutaud,N.C., Anderson,B.M., Brown,K.D., Wright,H.H., Abramson,R.K., Cuccaro,M.L., Gilbert,J.R., Pericak-Vance,M.A. and Haines,J.L.
Journal Genes Brain Behav. 8 (8), 753-757 (2009)
Title Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia .
Author Clot,F., Grabli,D., Cazeneuve,C., Roze,E., Castelnau,P., Chabrol,B., Landrieu,P., Nguyen,K., Ponsot,G., Abada,M., Doummar,D., Damier,P., Gil,R., Thobois,S., Ward,A.J., Hutchinson,M., Toutain,A., Picard,F., Camuzat,A., Fedirko,E., San,C., Bouteiller,D., LeGuern,E., Durr,A., Vidailhet,M. and Brice,A.
Journal Brain 132 (PT 7), 1753-1763 (2009)
Title Tetrahydrobiopterin biosynthesis, regeneration and functions .
Author Thony,B., Auerbach,G. and Blau,N.
Journal Biochem. J. 347 (PT 1), 1-16 (2000)
Title Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase .
Author Kluge,C., Brecevic,L., Heizmann,C.W., Blau,N. and Thony,B.
Journal Eur. J. Biochem. 240 (2), 477-484 (1996)
Title Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity .
Author Oppliger,T., Thony,B., Nar,H., Burgisser,D., Huber,R., Heizmann,C.W. and Blau,N.
Journal J. Biol. Chem. 270 (49), 29498-29506 (1995)
Title Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme .
Author Thony,B., Leimbacher,W., Burgisser,D. and Heizmann,C.W.
Journal Biochem. Biophys. Res. Commun. 189 (3), 1437-1443 (1992)
Title Biochemistry and function of pteridine synthesis in human and murine macrophages .
Author Werner,E.R., Werner-Felmayer,G., Fuchs,D., Hausen,A., Reibnegger,R., Yim,J.J. and Wachter,H.
Journal Pathobiology 59 (4), 276-279 (1991)
Title Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes .
Author Scriver,C.R., Clow,C.L., Kaplan,P. and Niederwieser,A.
Journal Hum. Genet. 77 (2), 168-171 (1987)


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