Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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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
Issue number6
StatePublished - 1992


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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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