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How can a change in a mutant protein result in hypercholesterolemia? Is that really the cause?

3 doctors weighed in
Dr. Gurmukh Singh
Pathology
2 doctors agree

In brief: LDL receptor

A properly functioning receptor for low density lipoprotein is one of the many proteins needed to maintain a normal level of cholesterol.
A mutant LDL receptor may interfere with removal of LDL and result in hypercholesterolemia. This is just one example of a mutated protein causing alteration in cholesterol levels.

In brief: LDL receptor

A properly functioning receptor for low density lipoprotein is one of the many proteins needed to maintain a normal level of cholesterol.
A mutant LDL receptor may interfere with removal of LDL and result in hypercholesterolemia. This is just one example of a mutated protein causing alteration in cholesterol levels.
Dr. Gurmukh Singh
Dr. Gurmukh Singh
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