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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Hobbs, Helen H., Brown, Michael S., Goldstein, Joseph L.·1992·Human Mutation
DOI 10.1002/humu.1380010602
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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.

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Metadata

Authors
Hobbs, H. H., Brown, M. S., & Goldstein, J. L.
Venue
Human Mutation
Publisher
Hindawi Limited
Published
1992
Volume
1
Issue
6
Pages
445-466
ISSN
  • 1059-7794
  • 1098-1004
DOI
10.1002/humu.1380010602
Cited by
921
References
3
Language
en
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 8644 d)

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