APOA1
APOA1
A gene on chromosome 11q23-q24 that encodes apolipoprotein A1, the main protein component of high-density lipoprotein (HDL) in plasma, which promotes cholesterol efflux from tissues to the liver for excretion and is a cofactor for lecithin cholesterolacyltransferase (LCAT), which is responsible for forming most plasma cholesteryl esters.Molecular pathology
APOA1 mutations cause HDL deficiency (e.g., Tangier disease and systemic non-neuropathic amyloidosis).