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FLASH GENE
Symbol PDHX contributors: mct - updated : 05-02-2011
HGNC name pyruvate dehydrogenase complex, component X
HGNC id 21350
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a biotin binding lipoyl domain
  • an E3 binding domain
  • 2 oxoacid dehydrogenase acyltransferase catalytic domain
    • HOMOLOGY
    intraspecies homolog to lipoate acetyltransferase (E2)
    Homologene
    FAMILY
  • 2-oxoacid dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • required for anchoring E3 to the dihydrolipoamide transacetylase (E2) core of PDH complex. mediating the binding and optimal orientation of E3 with E2
  • E3 subunit of the pyruvate dehydrogenase (PDH) complex involved in the conversion of pyruvate to acetyl coenzyme A, which links glycolysis and the Krebs cycle
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
  • subunit of the pyruvate dehydrogenase complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding lipoamide dehydrogenase (E3)
    • cell & other
    REGULATION
    Other regulated by HNF3B,HNF1A,SP1 and SP3 transcription factors
    ASSOCIATED DISORDERS
    corresponding disease(s) PDHX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    correlated with non-progressive encephalopathy and long-term survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene for susceptibility to systemic lupus erythematosus
    Marker
    Therapy target
    ANIMAL & CELL MODELS