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FLASH GENE
Symbol MUT contributors: mct - updated : 23-04-2013
HGNC name methylmalonyl Coenzyme A mutase
HGNC id 7526
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
 mouthgingiva   
Nervousbrain    
Respiratorylung    
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 32 leader sequence A
  • N terminal CoA binding domain
  • TIM-barrel domain (beta/alpha 8 barrel domain)
  • a C-terminal domain 5 cofactor-binding domain with a large beta sheet consisting of five parallel strands
    • mono polymer homomer , dimer
    isoforms Precursor translocated in the mitochondria and cleaved by a matrix peptidase to form the mature subunit (718 AA)
    HOMOLOGY
    Homologene
    FAMILY methylmalonyl-Coa mutase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • conversion of L-methylmalonyl-CoA to succinyl-CoA in the propionyl-CoA catabolic pathway toward the Krebs cycle
  • involved in the degradation of several amino acids (isoleucine, valine, methionine and threonine) odd-chain fatty acids and cholesterol via propionyl-CoA
    • to the tricarboxylic acid cycle
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , organic acid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • adenosylcobalamin (vitamin B12 dependent)
    • protein
  • MMAA exhibits GTPase activity that is modulated by MUT
  • MMAA plays dual roles in MUT activity
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MUT
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS