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FLASH GENE
Symbol HMGCL contributors: mct - updated : 22-03-2017
HGNC name 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
HGNC id 5005
Corresponding disease
HMGCLD HMG-CoA lyase deficiency
Location 1p36.12      Physical location : 24.128.367 - 24.151.949
Synonym name
  • hydroxymethylglutaryl-CoA lyase, mitochondrial
    • Synonym symbol(s) HL
    EC.number 4.1.3.4
    DNA
    TYPE functioning gene
    STRUCTURE 23.58 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • CpG islands and Sp1 binding sites
  • polyadenylation signal
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two alternative spliced variants, one with skipping of exons 5 and 6
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1617 - 325 - 2012 21952825
    7 - 1412 - 254 - 2012 21952825
  • deletions of exons 5 and 6
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Homo sapiens
     intestinesmall intestineduodenum   Homo sapiens
     liver   highly Homo sapiens
    Reproductivefemale systemuteruscervix highly
    Urinarybladder   highly
     kidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • contains 8 cysteines, but it lacks the C-terminal cysteine implicated in thiol/disulfide exchange
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Hmgcl
    ortholog to rattus Hmgcl
    Homologene
    FAMILY HMG-CoA lyase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • 3-hydroxy-3-methylglutaryl-CoA lyase, branched chain, last enzyme of ketogenesis from fatty acids
  • also leucine catabolism
  • mitochondrial and peroxisomal matrix enzyme
  • catalyzes formation of acetyl-CoA and acetoacetate in a reaction that requires divalent cation and is stimulated by sulfhydryl protective reagents
  • catalyzes a cation-dependent cleavage of substrate into acetyl-CoA and acetoacetate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , lipid/lipoprotein
    signaling
  • final step of ketogenesis and leucine catabolism
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HMGCLD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    lethal in HMGCL-deficient mice