The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

  • Lipid metabolic process
  • Triglyceride metabolic process
  • Lipid transport
  • Steroid metabolic process
  • Cholesterol metabolic process
  • Hyperalphalipoproteinemia 1
  • Familial hypercholesterolemia
  • Aortic atherosclerosis
  • Coronary stenosis
  • Tangier disease
  • Familial Hypercholesterolemia

Based on Ayass Bioscience, LLC Data Analysis

Emw. Structure of the CETP protein. Based on PyMOL rendering of PDB 2obd.

Gene Location

Pathogenic Prevalence

% 0.102145045965271

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

T=0.000016(2/121252,ExAC)
T=0.00007(1/15378,ALFAProject)
T=0.00008(1/12996,GO-ESP)
T=0.0003(1/3854,ALSPAC)
T=0.0003(1/3708,TWINSUK)

delT=0.000016(4/251454,GnomAD_exome)
delT=0.000151(19/125568,TOPMED)
delT=0.000016(2/121382,ExAC)
delT=0.00006(2/31392,GnomAD)
delT=0.00008(1/12518,GO-ESP)
delT=0.0000(0/2188,ALFAProject)