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FLASH GENE
Symbol PON1 contributors: npt/mct - updated : 29-11-2017
HGNC name paraoxonase 1
HGNC id 9204
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in atherosclerosis
constitutional     --low  
in patients with calcific aortic valve stenosis (AS) and its activity was inversely correlated with the severity of AS
Susceptibility
  • to coronary heart disease but not myocardial infarction
  • atherosclerosis
  • pesticide poisoning
  • exsudative age-related macular degeneration
  • to abdominal aortic aneurysm (Giusti 2008)
  • Alzheimer disease (AD)
  • to sporadic amyotrophic lateral sclerosis
  • to attaining longevity
  • to strocke
  • Variant & Polymorphism SNP , other
  • Arg192 allele increased survival at extreme advanced age
  • polymorphism 192Q/R, 55M/L,and promoter variant 107C/T increases protection against coronary artery disease
  • -161[C/T] SNP in creasing the risk of Alzheimer
  • Q192R polymorphism increasing the risk of sporadic amyotrophic lateral sclerosis and associated with stroke and myocardial infarction
  • variants at codon 192 impact on the probability of attaining longevity
  • Q192R polymorphism could be an important risk factor for stroke
  • rs854563 associated with coronary atherosclerosis
  • multiple variants in PON influence serum paraoxonase activity, and low serum paraoxonase activity is a risk factor for AD
  • Candidate gene
    Marker
    Therapy target
  • for future cardio protection therapy via the macrophage PON1 binding sites
  • ANIMAL & CELL MODELS