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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
Author(s) -
Hobbs Helen H.,
Brown Michael S.,
Goldstein Joseph L.
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010602
Subject(s) - familial hypercholesterolemia , ldl receptor , biology , lrp1b , receptor , gene , mutation , genetics , function (biology) , transmembrane protein , endocrinology , lipoprotein , cholesterol , low density lipoprotein , medicine
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.