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Sequence in raw or FASTA format:


Blast Method:


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

Clone ID Definition Vector Stock Status Price *Turnaround time Select
OHu19651D Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. pcDNA3.1-C-(k)DYK In-stock Starting from $99 5-7
OHu19651C Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. Your vector of choice In-stock Starting from $99 5-7
OHu19651M Mutant Clone for Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. pcDNA3.1-C-(k)DYK In-stock Starting from $149 Additional 5 days
OHu19651CM Mutant Clone for Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. Your vector of choice In-stock Starting from $149 Additional 5 days

*Business Day

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000317.2, 164663900
Length 438 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.
Product 6-pyruvoyl tetrahydrobiopterin synthase

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 Synonym:PTPS
Exon (2)163..242
Gene Synonym:PTPS
Exon (3)243..265
Gene Synonym:PTPS
Exon (4)266..322
Gene Synonym:PTPS
Exon (5)323..393
Gene Synonym:PTPS
Exon (6)394..935
Gene Synonym:PTPS
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Position Chain Variation Link
54+c, gdbSNP:371987982
57+c, gdbSNP:377086462
68+a, gdbSNP:201697689
74+a, gdbSNP:369790584
96+g, tdbSNP:138154701
125+c, tdbSNP:104894274
153+a, gdbSNP:104894273
174+a, gdbSNP:374871539
177+a, tdbSNP:201575138
200+a, gdbSNP:372852903
218+a, gdbSNP:104894278
234+a, gdbSNP:104894275
245+a, gdbSNP:104894277
265+a, gdbSNP:189051075
271+c, tdbSNP:201156784
274+c, tdbSNP:143472856
279+c, tdbSNP:370340361
295+c, tdbSNP:200279736
296+a, cdbSNP:199748848
301+c, tdbSNP:201388369
302+g, tdbSNP:375003976
338+c, g, tdbSNP:104894276
365+a, gdbSNP:104894280
376+a, cdbSNP:145882709
388+g, tdbSNP:11541630
391+a, gdbSNP:148185068
396+c, tdbSNP:200712908
421+c, gdbSNP:17851590
426+a, gdbSNP:104894279
443+c, tdbSNP:372196281
446+c, tdbSNP:141163668
449+g, tdbSNP:150726932
451+a, tdbSNP:139969809
478+c, tdbSNP:199603175
484+c, tdbSNP:59731976
499+g, tdbSNP:146364246
522+g, tdbSNP:374835803
555+c, g, tdbSNP:200010468
577..578+, cdbSNP:35196884
577+c, tdbSNP:149320135
577+, tdbSNP:112454369
613+g, tdbSNP:3211484
complement(768)-c, adbSNP:1126546
908..911+, aaagdbSNP:201791923
916+a, gdbSNP:191597540
Gene SymbolPTS
Gene SynonymPTPS
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 Starting from $99 5-7
Title Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations .
Author Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ and Liu TT.
Journal J. Hum. Genet. 57 (2), 145-152 (2012)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL and O'Brien SJ.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency .
Author Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N and Wasant P.
Journal J. Inherit. Metab. Dis. 32 (SUPPL 1), S279-S282 (2009)
Title Examination of tetrahydrobiopterin pathway genes in autism .
Author Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA and Haines JL.
Journal Genes Brain Behav. 8 (8), 753-757 (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 CW, 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 CW 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 CW.
Journal Biochem. Biophys. Res. Commun. 189 (3), 1437-1443 (1992)
Title Biochemistry and function of pteridine synthesis in human and murine macrophages .
Author Werner ER, Werner-Felmayer G, Fuchs D, Hausen A, Reibnegger R, Yim
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 CR, Clow CL, Kaplan P and Niederwieser A.
Journal Hum. Genet. 77 (2), 168-171 (1987)

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