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FLASH GENE
Symbol MMAB contributors: - updated : 24-02-2006
HGNC name methylmalonic aciduria (cobalamin deficiency) cblB type
HGNC id 19331
Corresponding disease
MMAB methylmalonic aciduria, cblB type
Location 12q24      Physical location : 109.991.522 - 110.011.358
Synonym name
  • ATP : Cob(I)alamin adenosyltransferase
  • methylmalonic aciduria (cobalamin deficiency) type B
  • Synonym symbol(s) ATR, MGC20496
    EC.number 2.5.1.17
    DNA
    TYPE functioning gene
    STRUCTURE 18.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • leader sequence
  • signal cleavage site consistent with localization to the mitochondria
  • HOMOLOGY
    interspecies homolog to chimpanzee LOC452403
    ortholog to murine Mmab
    Homologene
    FAMILY Cob(I)alamin adenosyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • adenosyltransferase responsible for converting methylmalonyl CoA to succinyl CoA in the mitochondrion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    cobalamin utilization pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMAB
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS