Lipid Disorders and Mutations in the APOB Gene
Author(s) -
Amanda Whitfield,
P. Hugh R. Barrett,
Frank M. van Bockxmeer,
John R. Burnett
Publication year - 2004
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2004.038026
Subject(s) - apolipoprotein b , chylomicron , very low density lipoprotein , ldl receptor , familial hypercholesterolemia , microsomal triglyceride transfer protein , apolipoprotein c2 , lipoprotein , biology , medicine , endocrinology , genetics , cholesterol
Plasma lipoproteins are important determinants of atherosclerosis. Apolipoprotein (apo) B is a large, amphipathic glycoprotein that plays a central role in human lipoprotein metabolism. Two forms of apoB are produced from the APOB gene by a unique posttranscriptional editing process: apoB-48, which is required for chylomicron production in the small intestine, and apoB-100, required for VLDL production in the liver. In addition to being the essential structural component of VLDL, apoB-100 is the ligand for LDL-receptor-mediated endocytosis of LDL particles.
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