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FLASH GENE
Symbol GLO1 contributors: mct - updated : 06-11-2010
HGNC name glyoxalase I
HGNC id 4323
Location 6p21.2      Physical location : 38.643.703 - 38.670.952
Synonym name
  • lactoyl glutathione-lyase
  • glyoxalase domain containing 1
  • ketone-aldehyde mutase
  • S-D-lactoylglutathione methylglyoxal lyase
  • aldoketomutase
  • methylglyoxalase
    • Synonym symbol(s) GLYI, Glx I
    EC.number 4.4.1.5
    DNA
    TYPE functioning gene
    STRUCTURE 27.26 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - D6S29 - GLO1 - D6S19 - D6S5 - PGC- D6S4 ,MUT MUT ,PGK1P2 - D6S223 - D6S23 - KRAS1P - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2071 20.8 184 - 1999 10564821
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrainsubstantia nigra  
    Reproductivemale systemprostate   
    Skin/Tegumentskin    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • glyoxalase I family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text enzyme present in cytosol
    basic FUNCTION
  • involved in the detoxification of methylglyoxal
  • responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutathione
  • antioxidant enzyme which detoxifies alpha-ketoaldehydes to prevent the accumulation of pro-oxidant compounds, such as methylglyoxal, in all cell types
  • its activity is required for osteoclastogenesis
  • catalyzes the conversion of reactive alpha-oxoaldehydes to corresponding alpha-hydroxyacids
  • cellular defense enzyme involved in the detoxification of methylglyoxal, a cytotoxic byproduct of glycolysis
  • may have a function in the regulation of detoxification and target adduction by the glycolytic by product methylglyoxal in malignant melanoma
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • one zinc ion per molecule
    • protein
  • methyl-gerfelin (M-GFN) targets GLO1, resulting in the inhibition of osteoclastogenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in breast cancer, small cell lung cancer, acute myeloid leukemia, sarcoma
    tumoral     --over  
    in melanomas
    constitutional     --low  
    observed in major depressive and bipolar disorder patients in a current depressive state, as compared with healthy control subjects
    tumoral     --over  
    in kidney tumors
    Susceptibility
  • to autism
  • to breast cancer
    • Variant & Polymorphism SNP , other
  • C419A is a predisposing factor for autism
  • Glu111Ala polymorphism associated with breast cancer
    • Candidate gene
    Marker
    Therapy target
  • may represent a useful target for therapy in cancers with GLO1 amplification
    • ANIMAL & CELL MODELS