PON3 Chromosome 7

Paraoxonase 3
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Paraoxonases
Locus Type
gene with protein product
Location
7q21.3
Ensembl
ENSG00000105852
Associated Conditions (1)
Amyotrophic lateral sclerosis
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS147006695 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
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