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FLASH GENE
Symbol APOC3 contributors: mct - updated : 21-03-3012
HGNC name apolipoprotein C-III
HGNC id 610
ASSOCIATED DISORDERS
corresponding disease(s) APOC3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
null mutation confers a favorable lipid profile and apparent cardioprotection and does not result in any obvious detrimental effect (Pollin 2008)
constitutional     --over  
increased in type 1 diabetic patients
Susceptibility
  • to higher triglyceride dosage and to low HDL-cholesterol
  • to type 1 diabetes
  • to acute myocardial infarction in diabetic patients
  • Variant & Polymorphism SNP , other
  • C1100T increase HDL and protecting against coronary artery disease
  • haplotype increasing thre risk of type 1 diabetes
  • association of polymorphism with acute myocardial infarction in diabetic patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularatheromacardiac
    therapies aimed specifically at down-regulating APOC3 expression will be clinically efficacious and safe in reducing the morbidity and mortality associated with coronary artery disease
    diabetetype 1 
    target for the treatment of type 1 diabetes
    ANIMAL & CELL MODELS