Lipoprotein Lipase S447X

Lipoprotein lipase (LPL) hydrolyzes triglycerides in the circulation and promotes the hepatic uptake of remnant lipoproteins. Since the gene was cloned in 1989, more than 100 LPL gene mutations have been identified, the majority of which cause loss of enzymatic function. In contrast to this, the naturally occurring LPL S447X variant is associated with increased lipolytic function and an anti-atherogenic lipid profile and can therefore be...