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FLASH GENE
Symbol MCCC1 contributors: mct - updated : 09-03-2007
HGNC name methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
HGNC id 6936
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
 mouthtongue  highly
Respiratoryrespiratory tracttrachea  highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • N terminal mitochondrial signal peptide (46AA)
  • CPS, N terminal domain
  • ATP binding domain
  • biotine carboxylase domain
  • biotin attachment site
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Mccc1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalyzing one step of degradation of leucine in acetyl COA and aceto-acetate
  • catalyzing carboxylation of 3 methylcrotonyl COA to form 3 methylglutaconyl-COA
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , organic acid
    signaling
    leucine catabolism
    a component
  • heterodimerizing with the beta catalytic subunit
  • heteromultimeric complex that is composed of alpha and beta subunits which are encoded by distinct genes (Chu 2007)
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    biotin
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCCC1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS