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FLASH GENE
Symbol MMAA contributors: mct - updated : 23-04-2013
HGNC name methylmalonic aciduria (cobalamin deficiency) type A, cblA type
HGNC id 18871
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 5943 - 418 - 2002 12438653
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 liver    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal mitochondrial leader sequence cleavage site
  • Walker A and B ATP-binding motifs
  • a Mg(2+)-binding site
  • a GTP-binding site
  • HOMOLOGY
    interspecies ortholog to murine Mmaa
    Homologene
    FAMILY argK family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • involved in the translocation of the cobalamin into mitochondria for the final steps of adenosylcobalamine (AdoCbl) synthesis
  • required for the intracellular metabolism of cobalamin (Cbl)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • exhibits GTPase activity that is modulated by MUT
  • plays dual roles in MUT activity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMAA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS