PON1

Full Name: Paraoxonase 1

Genomic Location: Chromosome 7:95,297,676-95,324,707 

Protein Size: 355 amino acids

Function:

This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy.

Linked SNP(s):

  • rs662 is linked to PON, it is located in the protein coding region.
  • Population frequencies are approximately 72% for the reference allele (A) and 38% for the alternate allele (G).
  • Studies suggest the G allele is associated with a poorer lipid profile that can be mitigated with a healthy diet.
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