ATP-binding cassette sub-family A member 1 (ABCA1) (ABCA1)

ATP-binding cassette sub-family A member 1 (ABCA1) is a critical integral membrane protein that functions as a primary gatekeeper for cellular cholesterol and phospholipid efflux. It mediates the transfer of these lipids to lipid-poor apolipoprotein A-I (ApoA-I), initiating the formation of high-density lipoprotein (HDL) particles in a process known as reverse cholesterol transport [UniProt: P94184]. By removing excess cholesterol from peripheral tissues, particularly from macrophages in the arterial wall, ABCA1 plays a vital role in preventing the development of atherosclerosis and foam cell formation [PubMed: 29408234].\n\nMutations in the ABCA1 gene are the underlying cause of Tangier disease, a rare genetic disorder characterized by severely reduced HDL levels and premature cardiovascular disease [StatPearls: NBK551639]. Beyond its cardiovascular impact, ABCA1 is involved in brain lipid metabolism and has been linked to the clearance of amyloid-beta, making it a target of interest for Alzheimer's disease [PubMed: 31235515]. Pharmacological targeting of ABCA1 primarily involves the use of Liver X Receptor (LXR) agonists to upregulate its expression, although clinical application has been limited by side effects such as hepatic steatosis and hypertriglyceridemia [PubMed: 25648657].

Other names

Cholesterol efflux regulatory proteinCERPABC1ATP-binding cassette transporter 1HDLDT1TGD

Transcriptional upregulation via activation of nuclear receptors such as Liver X Receptors (LXRs) and Peroxisome Proliferator-Activated Receptors (PPARs), which increases the synthesis of ABCA1 protein to promote cholesterol efflux [PubMed: 25648657].