Abstract
The cell surface receptor for low density lipoprotein (LDL) plays an important role in the regulation of cholesterol metabolism in humans and animals (Brown and Goldstein, 1986). This receptor binds LDL, the major plasma cholesterol transport protein and carries it into cells. Since its discovery 13 years ago, the LDL receptor has proven to be an extremely useful system for the study of receptor-mediated endocytosis, the process by which macromolecules enter cells after binding to receptors in coated pits. This receptor is also of interest because its expression is regulated at the transcriptional level by a feedback mechanism that is responsive to the level of cholesterol in the cell (Russell et al., 1983). A third and distinctive feature of the LDL receptor is the frequent occurrence of mutations that disrupt its structure and function. These mutations occur in patients with the genetic disease, familial hypercholesterolemia (FH) (Goldstein et al., 1985). When mutant receptor genes are present in the heterozygous or homozygous state, the plasma level of LDL rises and atherosclerosis ensues.
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References
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© 1988 Springer-Verlag Berlin Heidelberg
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Schneider, W.J. (1988). The LDL Receptor: Structural Insight from Human Mutations. In: Op den Kamp, J.A.F. (eds) Membrane Biogenesis. NATO ASI Series, vol 16. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73184-6_18
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DOI: https://doi.org/10.1007/978-3-642-73184-6_18
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