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FLASH GENE
Symbol MCEE contributors: mct - updated : 29-04-2013
HGNC name methylmalonyl CoA epimerase
HGNC id 16732
Corresponding disease
MCEED methylmalonyl-CoA epimerase deficiency
Location 2p13.3      Physical location : 71.336.805 - 71.357.394
Synonym name
  • glyoxalase domain containing 2
  • DL-methylmalonyl-CoA racemase
  • methylmalonyl-CoA epimerase, mitochondrial
  • Synonym symbol(s) GLOD2
    EC.number 5.1.99.1
    DNA
    TYPE functioning gene
    STRUCTURE 20.59 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 875 - 176 - 2007 17823972
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Hearing/Equilibriumear   highly
    Reproductivemale systemprostate   
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY glyoxalase I family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • catalysing the isomerization of O-methylmalonyl CoA in L-methylmalonyl CoA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    propionyl CoA
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCEED
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS