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FLASH GENE
Symbol DLD contributors: npt/shn - updated : 06-11-2012
HGNC name dihydrolipoamide dehydrogenase
HGNC id 2898
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pyridine nucleotide disulphide oxidoreductase domain
  • a NAD+ small domain in a large FAD domain
  • an interaction domain with E2, through E3BP (PDHX)
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to Dld, Rattus norvegicus
    ortholog to Dld, Mus musculus
    ortholog to dld, Danio rerio
    ortholog to DLD, Pan troglodytes
    Homologene
    FAMILY
  • class-I pyridine nucleotide-disulfide oxidoreductase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalyzing the oxidation of dihydrolipoamide, hE3 uses two molecules : non-covalently bound FAD and a transiently bound substrate, NAD+
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism organic acid
    signaling
    a component
  • E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, FAD dependent,reducing NAD+
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • a FAD per subunit
    • protein
  • E3-binding domain of E3BP
    • cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s) DLDD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • E340K, D444V, R447G, and R460G mutations in the dimer interface domain of dihydrolipoamide dehydrogenase (DLD) decrease to various degrees its activity
  • under elevated oxidative stress, expression of DLD proteins with dimer interface mutations greatly accelerated the loss of respiratory function, leading to oxidative damage to the lipoic acid cofactor of pyruvate dehydrogenase and &
    • 945;-ketoglutarate dehydrogenase