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Lipoprotein lipase is a 475 amino acid pro-peptide processed to an 448 residue actve lipase after cleavage of a signal peptide. It is mainly involved in the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL). Its binding to endothelial heparin sulfate proteogylcans is functionally necessary and also important is apolipoprotein APOC2, which co-activates LPL activity in the presence of lipids on the vascular endothelium. It is coded by the LPL gene at 8p22. Mutations are a cause of lipoprotein lipase deficiency where childhood patients present with massive hypertriglyceridemia often associated with abdominal pain or pancreatitis, hepatosplenomegaly and marked xanthomata. Variations correlate with plasma levels of HDL cholesterol and obesity.

LPL has multiple polymorphisms associated with disease including Ser447stop, Hind III and Pvu II[1]. Thus the Hind III, H2H2 genotype is associated with ischaemic heart disease.


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