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FLASH GENE
Symbol HPD contributors: mct/npt - updated : 15-05-2013
HGNC name 4-hydroxyphenylpyruvate dioxygenase
HGNC id 5147
Corresponding disease
HPD tyrosinemia, type III
HWKU hawkinsinuria
Location 12q24.31      Physical location : 122.277.434 - 122.326.517
Synonym name
  • glyoxalase domain containing 3
  • 4-hydroxyphenylpyruvic acid oxidase
    • Synonym symbol(s) PPD, 4-HPPD, 4HPPD, GLOD3, HPPDase
    EC.number 1.13.11.27
    DNA
    TYPE functioning gene
    STRUCTURE 19.34 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 1916 - 354 - 1997 9325050
    14 - 1440 45 393 - 1997 9325050
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly
    Reproductivefemale systemuteruscervix  
    Urinarykidney    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • 4HPPD family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the second step of tyrosine catabolism (conversion of 4 hydroxyphenylpyruvate to homogentisate)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binds 1 iron ion per subunit
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPD , HWKU
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS