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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
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