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 language | English (US) |
|---|---|
| Pages (from-to) | 445-466 |
| Number of pages | 22 |
| Journal | Human Mutation |
| Volume | 1 |
| Issue number | 6 |
| State | Published - 1992 |
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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
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. / Hobbs, Helen H.; Brown, Michael S.; Goldstein, Joseph L.
In: Human Mutation, Vol. 1, No. 6, 1992, p. 445-466.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
AU - Hobbs, Helen H.
AU - Brown, Michael S.
AU - Goldstein, Joseph L.
PY - 1992
Y1 - 1992
N2 - 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.
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.
KW - Coronary atherosclerosis
KW - Familial hypercholesterolemia (FH)
KW - Low density lipoprotein (LDL) receptor
KW - Membrane proteins
KW - Mutations
KW - Receptor-mediated endocytosis
UR - http://www.scopus.com/inward/record.url?scp=0027026881&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0027026881&partnerID=8YFLogxK
M3 - Article
C2 - 1301956
AN - SCOPUS:0027026881
VL - 1
SP - 445
EP - 466
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 6
ER -