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Apolipoprotein B 100, Familial Defective

Type IIb Hyperlipoproteinemia is caused by Mutation in the receptor-binding domain of Apolipoprotein B-100 which is a major component of Low-Density Lipoproteins and Very-Low-Density Lipoproteins resulting in reduced clearance of these Lipoproteins. It is characterized by both Hypercholesterolemia and Hypertriglyceridemia (combined Hyperlipidemia).