Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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849 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)445-466
Number of pages22
JournalHuman Mutation
Volume1
Issue number6
StatePublished - 1992

Fingerprint

Hyperlipoproteinemia Type II
LDL Receptors
Molecular Biology
Mutation
LDL Lipoproteins
Genes
Coronary Artery Disease
Membrane Proteins
Cholesterol
Proteins

Keywords

  • Coronary atherosclerosis
  • Familial hypercholesterolemia (FH)
  • Low density lipoprotein (LDL) receptor
  • Membrane proteins
  • Mutations
  • Receptor-mediated endocytosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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AB - 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.

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KW - Membrane proteins

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