title: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
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.
authors.affiliation: Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235.
authors.forename: H H
authors.initials: HH
authors.lastname: Hobbs
authors.forename: M S
authors.initials: MS
authors.lastname: Brown
authors.forename: J L
authors.initials: JL
authors.lastname: Goldstein
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008967:Molecular Biology; D008969:Molecular Sequence Data; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; D004247:DNA