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FLASH GENE
Symbol APOA5 contributors: mct - updated : 08-04-2022
HGNC name apolipoprotein A-V
HGNC id 17288
ASSOCIATED DISORDERS
corresponding disease(s) HLP5
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
during liver regeneration
Susceptibility
  • to coronary artery disease
  • to higher plama triglycerides
  • to familial combined hyperlipidemia
  • to variation of BMI and obesity risk in both men and women
  • to metabolic syndrome
  • Variant & Polymorphism SNP
  • SNP1, SNP2, SNP3, polymorphism T1131>C and S19>W variant, c.553G>T, associated with hypertriglyceridemia
  • S19W polymorphism is likely to be functional and explain the strong association of this variant with plasma triglycerides
  • variant c.553G > T in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and altered triglyceride levels
  • 1131T>C SNP, modulates the effect of fat intake on BMI and obesity risk in both men and women
  • APOA5 rs662799 is associated with metabolic syndrome
  • APOA5 variants cause hypertriglyceridemia
  • hypertriglyceridemic patients carrying the APOA5 -1131T>C polymorphism exhibited increased atherogenic LDL levels and arterial stiffness, probably due to an effect of the -1131T>C polymorphism on apoA5 concentrations
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS