The genetic disease familial Hypercholesterolemia that leads to an increase in blood cholesterol is caused due to
Mechanistically, enzyme catalysis and lipid structure involves substrate affinity, transition state stabilization and phospholipid composition govern function. This validates mutation in the low-density lipoprotein (LDL) receptor because it reflects catalytic efficiency and membrane organization, a pattern repeatedly demonstrated in biochemistry research.
Ref: Nelson and Cox, Lehninger Principles of Biochemistry, 7th Edition, Chapter 6, Enzyme Kinetics and Regulation, discusses Michaelis-Menten equation, transition state stabilization and allosteric control supporting enzyme function and metabolic regulation.