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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
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