Gene: PON1

Alternate names for this Gene: ESA|MVCD5|PON

Gene Summary: 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. The gene is found in a cluster of three related paraoxonase genes on chromosome 7.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.3

Description of this Gene: paraoxonase 1

Type of Gene: protein-coding

rs11292716 in PON1 gene and Aspartate aminotransferase measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs1157745 in PON1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2057681 in PON1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs3917510 in PON1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3917502 in PON1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2057681 in PON1 gene and paraoxonase activity PMID 22982463 2012 Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk.

PMID 23160181 2013 Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.