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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
Corresponding disease
MCCC1 3-@methylcrotonyl-CoA carboxylase 1 deficiency
Location 3q25-q27      Physical location : 182.733.007 - 182.817.365
Synonym name
  • 3-methylcrotonyl-CoA carboxylase biotin-containing subunit
  • MCCase subunit alpha
  • 3-methylcrotonyl-CoA carboxylase 1
    • Synonym symbol(s) MCCA, MCCD1, FLJ25545, MCC-B, DKFZp686B20267, MCCC
    EC.number 6.4.1.4
    DNA
    TYPE functioning gene
    STRUCTURE 85.00 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D3S3715 - [D3S3565 - D3S1571 ] - D3S3609 - qter
    Authors Gallardo (01)
    Text [MCCC1 ]
    RNA
    TRANSCRIPTS type messenger
    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