Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Research output: Contribution to journalArticle

860 Scopus citations

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.

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

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Molecular genetics of the LDL receptor gene in familial hypercholesterolemia'. Together they form a unique fingerprint.

  • Cite this