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FLASH GENE
Symbol ATG5 contributors: mct/ - updated : 24-10-2018
HGNC name ATG5 autophagy related 5 homolog (S. cerevisiae)
HGNC id 589
ASSOCIATED DISORDERS
corresponding disease(s) SCAR25
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
led to increased mitochondrial mass in peripheral T cells
constitutional     --over  
in autoimmune demyelination and multiple sclerosis
tumoral somatic mutation      
in gastric and colorectal cancers with microsatellite instability
Susceptibility to development of hepatocellular carcinoma (HCC)
Variant & Polymorphism other
  • ATG5 rs17067724 significantly associated with HCC risk
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    obesity  
    ATF4/ATG5 axis in the hypothalamus may be a new potential therapeutic target for treating obesity and obesity-related metabolic diseases
    ANIMAL & CELL MODELS
  • All Atg5-null mice died within 1 day of delivery, the survival time of starved Atg5-deficient neonates (approximately 12 hours) was much shorter than that of wildtype mice (approximately 21 hours). Atg5-deficient neonates exhibited reduced amino acid concentrations in plasma and tissues and displayed signs of energy depletion. Neonates adapt to immediate post-birth starvation by inducing autophagy
  • mice deficient for Atg5 or Atg7 specifically in the dopaminergic neurons were less sensitive to developing a morphine reward response, behavioral sensitization, analgesic tolerance and physical dependence compared to wild-type mice
  • Atg5-deficient mice displayed abnormal Tbx2 expression and defects in valve development and chamber septation