In familial hypercholesterolemia, mutations in the structural gene for the LDL receptor disrupt normal synthesis, transport, and processing of this cell surface glycoprotein. As a consequence, mutant LDL receptors do not carry out effectively their physiological function, i.e., to remove LDL-cholesterol from the plasma. The resulting overaccumulation of cholesterol in the plasma leads to premature atherosclerosis.
|Original language||English (US)|
|Number of pages||3|
|Publication status||Published - 1988|
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)