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FLASH GENE
Symbol SIRT3 contributors: mct/pgu - updated : 15-10-2016
HGNC name sirtuin 3
HGNC id 14931
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in skeletal muscle in states of diabetes and obesity is an important component of the pathogenesis of type 2 diabetes, which can induce altered mitochondrial function, increase ROS production and oxidative stress, and lead to insulin resistance
Susceptibility
  • to survival at oldest age
  • to metabolic syndrome
  • Variant & Polymorphism SNP , repeat
  • VNTR with enhancer activity associated to longevity
  • SNP in SIRT3 gene is suggestive of a genetic association with the metabolic syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SIRT3-deficient mice exhibit striking mitochondrial protein hyperacetylation
  • Sirt3 plays an essential role in the Caloric restriction-mediated prevention of age-related cochlear cell death and hearing loss in mice
  • Sirt3 knockout mice exhibit decreased oxygen consumption and develop oxidative stress in skeletal muscle, leading to JNK activation and impaired insulin signaling
  • mice lacking Sirt3 (Sirt3KO) placed on a high-fat diet show accelerated obesity, insulin resistance, hyperlipidemia, and steatohepatitis compared to wild-type