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FLASH GENE
Symbol HGD contributors: npt/ - updated : 07-06-2006
HGNC name homogentisate 1,2-dioxygenase (homogentisate oxidase)
HGNC id 4892
Corresponding disease
AKU alkaptonuria, homogentisic oxidase deficiency
Location 3q21-q23      Physical location : 120.347.015 - 120.401.418
Synonym name
  • homogentisicase
  • homogentisate 1,2-dioxygenase
    • Synonym symbol(s) HAOD, HGO, AKU
    EC.number 1.13.11.5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text 99 ccc/GGG motifs
    STRUCTURE 54.31 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure 34 CpG dinucleotides
    MAPPING cloned Y linked Y status confirmed
    Map cen - D3S1278 - (HGD ,D3S1303 ) - D3S1267 - RHO - ACPP - D3S1238 - SLC2A2 - SST - qter
    Authors Japrocha (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 1920 49.8 445 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     intestinelarge intestinecolon  
     liver    
    Reproductivemale systemprostate   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , hexamer
    HOMOLOGY
    Homologene
    FAMILY
  • homogentisate dioxygenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • catalyzing the third step of tyrosine catabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
  • forming a dimer of trimers
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AKU
    related resource AKUdatabase Homogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS