CETP Gene: Cholesteryl Ester Transfer Protein – Function, Mutations, and Disease Associations

The CETP gene encodes cholesteryl ester transfer protein, a plasma glycoprotein that facilitates the transfer of cholesteryl esters from high-density lipoproteins (HDL) to apolipoprotein B-containing lipoproteins (VLDL, LDL). This process modulates HDL cholesterol levels and influences reverse cholesterol transport. Genetic variants in CETP are associated with altered HDL levels, CETP deficiency (hyperalphalipoproteinemia), and cardiovascular disease risk.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Lipoprotein metabolism (Reactome: R-HSA-174824)

• HDL remodeling (Reactome: R-HSA-8964058)

• Reverse cholesterol transport (KEGG: hsa04979)

Cholesteryl ester transfer protein (CETP) is a 476-amino acid glycoprotein primarily secreted by the liver. It circulates in plasma bound to lipoproteins and mediates the exchange of cholesteryl esters from HDL for triglycerides from VLDL and LDL. This activity regulates HDL particle size and cholesterol content. CETP deficiency results in markedly elevated HDL levels, while increased CETP activity is associated with lower HDL and higher cardiovascular risk. The protein structure includes a hydrophobic binding pocket for lipid transfer.