Symousavi Symousavi amilial hypercholesterolemia ------------------------------------ There are five major classes of FH due to LDLR mutations: Class I: LDLR is not synthesized at all. Class II: LDLR is not properly transported from the endoplasmic reticulum to the Golgi apparatus for expression on the cell surface. Class III: LDLR does not properly bind LDL on the cell surface because of a defect in either apolipoprotein B100 (R3500Q) or in LDL-R. Class IV: LDLR bound to LDL does not properly cluster in clathrin-coated pits for receptor-mediated endocytosis. Class V: LDLR is not recycled back to the cell surface.
Posted on: Sun, 08 Sep 2013 01:51:13 +0000
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