Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
HH Hobbs, MS Brown, JL Goldstein - Human mutation, 1992 - Wiley Online Library
HH Hobbs, MS Brown, JL Goldstein
Human mutation, 1992•Wiley Online LibraryThe low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that
mediates the uptake and lysosomal degradation of plasma LDL, thereby providing
cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal
dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma
levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in
the LDL receptor gene have been characterized at a molecular level. In this report, we …
mediates the uptake and lysosomal degradation of plasma LDL, thereby providing
cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal
dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma
levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in
the LDL receptor gene have been characterized at a molecular level. In this report, we …
Abstract
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in the LDL receptor gene have been characterized at a molecular level. In this report, we describe 79 additional mutations and review the insights that all 150 mutations have provided into the structure/function relationship of the receptor protein and the clinical manifestations of FH. © 1992 Wiley‐Liss, Inc.
Wiley Online Library