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 a... See more...

Aliases for PTS Gene

Aliases for PTS Gene

  • 6-Pyruvoyltetrahydropterin Synthase 2 3 5
  • PTPS 2 3 4
  • 6-Pyruvoyl Tetrahydrobiopterin Synthase 3 4
  • PTP Synthase 3 4
  • Truncated 6-Pyruvoyltetrahydropterin Synthase 3
  • EC 4
  • PTS 5

External Ids for PTS Gene

Previous GeneCards Identifiers for PTS Gene

  • GC11P114450
  • GC11P113609
  • GC11P112130
  • GC11P111634
  • GC11P111602
  • GC11P112097
  • GC11P108022

Summaries for PTS Gene

Entrez Gene Summary for PTS Gene

  • 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]

GeneCards Summary for PTS Gene

PTS (6-Pyruvoyltetrahydropterin Synthase) is a Protein Coding gene. Diseases associated with PTS include Hyperphenylalaninemia, Bh4-Deficient, A and Tetrahydrobiopterin Deficiency. Among its related pathways are eNOS activation and regulation and Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 6-pyruvoyltetrahydropterin synthase activity.

UniProtKB/Swiss-Prot Summary for PTS Gene

  • Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Gene Wiki entry for PTS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTS Gene

Genomics for PTS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J112225 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.9 1867 5.3 IKZF1 SMAD5 MBD2 POLR2A ELF1 NONO ZIC2 THAP11 CEBPB SIN3A HSALNG0087184 HSALNG0087185 HSALNG0087186 PTS lnc-PLET1-8 LINC02762 PLET1 ENSG00000255292 SDHD TIMM8B
GH11J112270 Promoter/Enhancer 1 Ensembl ENCODE 12.8 +44.4 44434 0.8 ELF1 TAL1 ZNF316 FOXK2 ZEB2 NRF1 TCF12 POLR2A L3MBTL2 ARID1B LINC02762 lnc-PLET1-2 PTS RPS12P21 RNU6-44P PLET1 piR-61240-064 NCAM1
GH11J112286 Enhancer 0.7 Ensembl 12.6 +59.9 59934 1 VEZF1 TAL1 FOSL1 ATF1 HDAC2 STAT5A TCF12 NFE2 MAFG TEAD4 PTS RPS12P21 PLET1 lnc-PLET1-2 LINC02762 piR-61240-064 NCAM1
GH11J112220 Enhancer 0.7 Ensembl ENCODE 6 -4.2 -4166 3.2 FOXA2 SPI1 ELF3 RXRB GATA2 HNF4A PPARG SOX13 FOXA3 TEAD1 LINC02762 PTS BCO2 lnc-PLET1-8 lnc-PTS-4
GH11J112174 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -50.1 -50050 3.4 CTCF ZNF513 SIN3A REST NBN TRIM22 KLF7 RXRA SMC3 RAD21 BCO2 HSALNG0087175 IL18 SDHD TIMM8B ENSG00000255292 NKAPD1 PIH1D2 KCTD9P4 PTS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTS

Top Transcription factor binding sites by QIAGEN in the PTS gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for PTS Gene

Latest Assembly
43,589 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
7,546 bases
Plus strand

(GRCh37/hg19 by Ensembl)
43,591 bases
Plus strand

Genomic View for PTS Gene

Genes around PTS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTS Gene

Proteins for PTS Gene

  • Protein details for PTS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    6-pyruvoyl tetrahydrobiopterin synthase
    Protein Accession:
    Secondary Accessions:
    • B0YJ87
    • Q8WVG8

    Protein attributes for PTS Gene

    145 amino acids
    Molecular mass:
    16386 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homohexamer formed of two homotrimers in a head to head fashion.
    • The active site is at the interface between 2 subunits. The proton acceptor Cys is on one subunit, and the charge relay system is on the other subunit.

    Three dimensional structures from OCA and Proteopedia for PTS Gene

neXtProt entry for PTS Gene

Post-translational modifications for PTS Gene

  • Phosphorylation of Ser-19 is required for maximal enzyme activity.
  • Ubiquitination at Lys29
  • Modification sites at PhosphoSitePlus

Other Protein References for PTS Gene

Antibodies for research

  • Abcam antibodies for PTS
  • Boster Bio Antibodies for PTS

No data available for DME Specific Peptides for PTS Gene

Domains & Families for PTS Gene

Gene Families for PTS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PTS Gene

  • 6-pyruvoyl tetrahydropterin synthase

Suggested Antigen Peptide Sequences for PTS Gene

GenScript: Design optimal peptide antigens:
  • 6-pyruvoyl tetrahydrobiopterin synthase (PTPS_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PTPS family.
  • Belongs to the PTPS family.
genes like me logo Genes that share domains with PTS: view

Function for PTS Gene

Molecular function for PTS Gene

UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=7,8-dihydroneopterin 3'-triphosphate = 6-pyruvoyl-5,6,7,8-tetrahydropterin + H(+) + triphosphate; Xref=Rhea:RHEA:22048, ChEBI:CHEBI:15378, ChEBI:CHEBI:18036, ChEBI:CHEBI:58462, ChEBI:CHEBI:136564; EC=; Evidence={ECO:0000269|PubMed:1282802};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate {ECO:0000269|PubMed:10531334}; Vmax=120 nmol/min/mg enzyme {ECO:0000269|PubMed:10531334};
GENATLAS Biochemistry:
6-pyruvoyl-tetrahydrobiopterin synthase,catalyzing the second step of tetrahydrobiopterin (BH4) synthesis

Enzyme Numbers (IUBMB) for PTS Gene

Phenotypes From GWAS Catalog for PTS Gene

Gene Ontology (GO) - Molecular Function for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003874 6-pyruvoyltetrahydropterin synthase activity IEA --
GO:0005515 protein binding IPI 19060904
GO:0016829 lyase activity IEA --
GO:0042802 identical protein binding IEA,IPI 16169070
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PTS: view
genes like me logo Genes that share phenotypes with PTS: view

Human Phenotype Ontology for PTS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTS Gene

MGI Knock Outs for PTS:
  • Pts Pts<tm1Ich>
  • Pts Pts<tm1Thny>
  • Pts Pts<tm1b(EUCOMM)Wtsi>

miRNA for PTS Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTS

No data available for Transcription Factor Targets and HOMER Transcription for PTS Gene

Localization for PTS Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTS gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PTS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PTS Gene

Pathways & Interactions for PTS Gene

genes like me logo Genes that share pathways with PTS: view

UniProtKB/Swiss-Prot Q03393-PTPS_HUMAN

  • Pathway: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.

SIGNOR curated interactions for PTS Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 3308682
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0007417 central nervous system development TAS 3308682
genes like me logo Genes that share ontologies with PTS: view

Drugs & Compounds for PTS Gene

(64) Drugs for PTS Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma 1141
Tetrahydrobiopterin Approved, Investigational Pharma 0
Mycophenolate mofetil Approved, Investigational Pharma Target, inhibitor IMPDH inhibitor 0
Benzocaine Approved, Investigational Pharma 3379
Dalteparin Approved Pharma 498

(33) Additional Compounds for PTS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-dihydroxy-3-triphosphooxypropyl)-7,8-dihydropterin
  • 6-(L-Erythro-1,2-dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphoric acid
  • 6-Carboxytetrahydropterin
  • 6-(1,2-Dioxopropyl)-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyltetrahydropterin
  • 6-Pyruvoyl-tetrahydropterin
  • 6-Pyruvoyl tetrahydropteridine
  • Acide triphosphorique
  • Catena-triphosphoric acid
  • H5P3O10
  • Inorganic triphosphate
  • Triphosphorsaeure
genes like me logo Genes that share compounds with PTS: view

Transcripts for PTS Gene

mRNA/cDNA for PTS Gene

11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTS

Alternative Splicing Database (ASD) splice patterns (SP) for PTS Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b
SP1: - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - -

Relevant External Links for PTS Gene

GeneLoc Exon Structure for

Expression for PTS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTS Gene

This gene is overexpressed in Fetal Brain (19.5), Adrenal (11.7), Oral epithelium (11.7), and Liver (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTS

SOURCE GeneReport for Unigene cluster for PTS Gene:


Evidence on tissue expression from TISSUES for PTS Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Pancreas(4.4)
  • Kidney(2.6)
  • Muscle(2.6)
  • Heart(2.6)
  • Skin(2.5)
  • Blood(2.5)
  • Adrenal gland(2.4)
  • Intestine(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.1)
  • Stomach(2.1)
  • Spleen(2.1)
  • Thyroid gland(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • pharynx
  • salivary gland
  • skull
  • chest wall
  • esophagus
  • abdominal wall
  • kidney
  • stomach
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PTS: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PTS Gene

Orthologs for PTS Gene

This gene was present in the common ancestor of animals.

Orthologs for PTS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTS 30 31
  • 99.54 (n)
(Canis familiaris)
Mammalia PTS 30 31
  • 90.05 (n)
(Bos Taurus)
Mammalia PTS 30 31
  • 86.67 (n)
(Rattus norvegicus)
Mammalia Pts 30
  • 85.37 (n)
(Mus musculus)
Mammalia Pts 30 17 31
  • 83.1 (n)
(Monodelphis domestica)
Mammalia PTS 31
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia PTS 31
  • 65 (a)
(Gallus gallus)
Aves PTS 30 31
  • 77.61 (n)
(Anolis carolinensis)
Reptilia PTS 31
  • 80 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487259 30
  • 67.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9800 30
(Danio rerio)
Actinopterygii pts 30
  • 70.4 (n)
PTS 31
  • 50 (a)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13866 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008730 30
  • 62.77 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta pr 30 31 32
  • 59.65 (n)
(Caenorhabditis elegans)
Secernentea ptps-1 30 31
  • 59.23 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5439 31
  • 54 (a)
Species where no ortholog for PTS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PTS Gene

Gene Tree for PTS (if available)
Gene Tree for PTS (if available)
Evolutionary constrained regions (ECRs) for PTS: view image

Paralogs for PTS Gene

genes like me logo Genes that share paralogs with PTS: view

No data available for Paralogs for PTS Gene

Variants for PTS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTS Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
859996 Pathogenic: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; BH4-deficient hyperphenylalaninemia A 112,226,516(+) C/T
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
862227 Likely Pathogenic: BH4-deficient hyperphenylalaninemia A 112,233,524(+) A/G
NM_000317.3(PTS):c.407A>G (p.Asp136Gly)
879173 Likely Benign: BH4-deficient hyperphenylalaninemia A 112,228,631(+) G/A
NM_000317.3(PTS):c.121G>A (p.Gly41Arg)
879174 Uncertain Significance: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; BH4-deficient hyperphenylalaninemia A 112,230,634(+) T/C
NM_000317.3(PTS):c.195T>C (p.Pro65=)
880375 Benign: BH4-deficient hyperphenylalaninemia A 112,233,489(+) A/T
NM_000317.3(PTS):c.372A>T (p.Val124=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for PTS Gene

Residual Variation Intolerance Score: 44.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PTS Gene

Disorders for PTS Gene

MalaCards: The human disease database

(16) MalaCards diseases for PTS Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PTS in MalaCards View complete list of genes associated with diseases


  • Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. {ECO:0000269 PubMed:10220141, ECO:0000269 PubMed:10531334, ECO:0000269 PubMed:10585341, ECO:0000269 PubMed:10874306, ECO:0000269 PubMed:11388593, ECO:0000269 PubMed:7493990, ECO:0000269 PubMed:7698774, ECO:0000269 PubMed:8178819, ECO:0000269 PubMed:8707300, ECO:0000269 PubMed:9159737, ECO:0000269 PubMed:9222757, ECO:0000269 PubMed:9450907}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for PTS Gene

hyperphenylalaninemia (phenylketonuria variant) with dystonia and progressive neurological degeneration (tetrahydrobiopterin BH4 synthesis deficiency)

Additional Disease Information for PTS

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTS: view

Publications for PTS Gene

  1. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. (PMID: 8178819) Thöny B … Heizmann CW (American journal of human genetics 1994) 3 4 23 74
  2. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 23 41
  3. Examination of tetrahydrobiopterin pathway genes in autism. (PMID: 19674121) Schnetz-Boutaud NC … Haines JL (Genes, brain, and behavior 2009) 3 23 41
  4. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. (PMID: 17407085) Ye J … Gu XF (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007) 3 23 41
  5. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (PMID: 10874306) Blau N … Thöny B (Human mutation 2000) 4 23 41

Products for PTS Gene

Sources for PTS Gene