Article
Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Arteriosclerosis, thrombosis, and vascular biology - 1 Jun 2006
Rip Jaap, Nierman Melchior C, Ross Colin J, Jukema Jan Wouter, Hayden Michael R, Kastelein John J P, Stroes Erik S G, Kuivenhoven Jan Albert
Abstract excerpt
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...
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