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FLASH GENE
Symbol PTS contributors: - updated : 27-12-2005
HGNC name 6-pyruvoyltetrahydropterin synthase
HGNC id 9689
Corresponding disease
PTSD 6-pyruvoyltetrahydropterin synthase deficiency
Location 11q23.1      Physical location : 112.097.087 - 112.104.693
Synonym name
  • PTP synthase
  • 6-pyruvoyl tetrahydrobiopterin synthase
  • Synonym symbol(s) PTPS, FLJ97081
    EC.number 4.2.3.12
    DNA
    TYPE functioning gene
    STRUCTURE 7.61 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 948 - 145 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    Reproductivemale systemprostate  highly
    Urinarybladder   highly
     kidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , hexamer
    HOMOLOGY
    Homologene
    FAMILY PTPS family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • 6-pyruvoyl-tetrahydrobiopterin synthase, catalyzing the second step of tetrahydrobiopterin (BH4) synthesis
  • involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homohexamer formed of two homotrimers in a head to head fashion
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    1 zinc ion per subunit
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PTSD
    related resource 6-Pyruvoyl-tetrahydropterin synthase deficiency
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS