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Symbol HMGCS2 contributors: mct - updated : 11-02-2012
HGNC name 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
HGNC id 5008
Corresponding disease
HMGCS2 HMG-CoA synthase deficiency
Location 1p12      Physical location : 120.290.619 - 120.311.555
Synonym name
  • HMG-CoA synthase
    • EC.number 4.1.3.5/2.3.3.10
    DNA
    TYPE functioning gene
    STRUCTURE 20.94 kb     10 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure a FOXO response element TATA binding protein NF1, SP1, CEBP, HNF1, HNF5
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2351 - 466 - 1997 9305755
    10 - 2477 - 508 - 1997 9305755
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon  
     liver   highly Homo sapiens
    Reproductivemale systemtestis   
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial targeting signal
  • C terminal catalytic domain
    • HOMOLOGY
    intraspecies homolog to HMGCS1
    Homologene
    FAMILY HMG-CoA synthase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2, first and regulating enzyme of ketogenic pathway, down-regulated through repression by c-Myc
  • regulates ketone body production
  • catalyzes the condensation of acetyl-CoA and acetoacetyl-CoA into 3-hydroxy-3-methylglutaryl CoA
  • could regulate adaptive metabolic responses during fasting
  • involved in the induction of fatty acid oxidation mediated by PPARA
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism organic acid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct target of MYC, which represses HMGCS2 transcriptional activity
  • HMGCS2-PPARA interaction is enhanced by HMGCS2 palmitoylation
    • cell & other
    REGULATION
    Other down regulated by insulin,inhibiting FOXOA stimulator transcription of HMGCS2
    ASSOCIATED DISORDERS
    corresponding disease(s) HMGCS2
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    preferentially in moderately and poorly differentiated colorectal carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS