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FLASH GENE
Symbol MCCC2 contributors: - updated : 09-03-2007
HGNC name methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
HGNC id 6937
Corresponding disease
MCCC2 3-@methylcrotonyl-CoA carboxylase 2 deficiency 2
Location 5q12-q13      Physical location : 70.883.114 - 70.954.528
Synonym name
  • biotin carboxylase
  • 3- Methylcrotonyl-CoA carboxylase non-biotin-containing subunit
  • MCCase subunit beta
    • Synonym symbol(s) MCCB, MCCD2
    EC.number 6.4.1.4
    DNA
    TYPE functioning gene
    STRUCTURE 70.00 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D5S427 - D5S2072 - D5S637 /MCCC2 MCCC2 - D5S650 - D5S2041 - qter
    Authors Gallardo (01)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 4000 - - - Gallardo
    - polyA site 2400 613 563 - Gallardo
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • carboxyltransferase domain
  • a binding site for the acyl-Coa substrate
  • putative signal peptide
    • secondary structure alpha (biotin containing) and beta subunit
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to Mccb aspergillus midulary
    ortholog to rattus mccc2
    Homologene
    FAMILY accD/PCCB family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalyzing carboxylation of 3 methylcrotonyl COA to form 3 methylglutaconyl-COA
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    leucine catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    magnesium Mg2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCCC2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS