[Molecular analysis of the LDL receptor].
The LDL receptor is a cell surface glycoprotein that regulates plasma cholesterol by mediating endocytosis of LDL, the major cholesterol transport protein in human plasma. Mutations in the LDL receptor gene cause familial hypercholesterolemia (FH). The LDL receptor was purified in 1982, its cDNA was cloned in 1984 by Yamamoto et al, and its gene was isolated in 1985 by Sudhof et al. This review attempts to focus on the molecular basis of the LDL receptor pathway and its regulatory roles in cholesterol homeostasis in the body.
Department of Geriatric Medicine, Kyoto University Faculty of Medicine.
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D000818:Animals; D001483:Base Sequence; D002784:Cholesterol / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D006938:Hyperlipoproteinemia Type II; D008099:Liver / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics* / Q000502:physiology
D011973:Receptors, LDL; D002784:Cholesterol