Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.

@article{Rip2006LipoproteinLS,
  title={Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.},
  author={Jaap Rip and Melchior C. Nierman and Colin Jd Ross and Jan Wouter Jukema and Michael R. Hayden and John J. P. Kastelein and Erik S. G. Stroes and Jan A. Kuivenhoven},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={2006},
  volume={26 6},
  pages={1236-45}
}
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 regarded as a gain-of-function mutation. This notion… CONTINUE READING
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