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The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor

, : The low density lipo protein receptor locus in familial hyper cholesterolemia multiple mutations disrupt transport and processing of a membrane receptor. Cell 32(3): 941-952

The receptor for low-density lipoprotein (LDL) is synthesized as a 120 kd [kilodalton] precursor that undergoes a 40 kd posttranslational increase in apparent MW en route to the cell surface. Seven mutations are described that disrupt synthesis, processing and transport of the receptor in fibroblasts from 77 subjects with the clinical diagnosis of homozygous familial hypercholesterolemia. One mutation obliterates synthesis of immunoprecipitable precursor. Three mutations specify precursors (100, 120 and 135 kd) that fail to undergo normal processing and fail to reach the cell surface. The other 3 mutations specify precursors (100, 120 and 170 kd) that undergo a normal 40 kd increase in MW and reach the surface, but do not bind LDL normally. Each mutation segregates as an allele at the LDL receptor locus. Signals for transport of receptors from endoplasmic reticulum to the cell surface are evidently contained within the amino acid sequences of the receptors, and mutations affecting these sequences can disrupt receptor transport.

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