ABCA1 (E7X5G) Rabbit mAb #96292

ATP-binding cassette (ABC) proteins are membrane-residing transporters that transport substrates across the membrane in an ATP-dependent manner. ABC substrates subject to active transport across the membrane include ions, amino acids, lipids, and sterols (1). ATP-Binding cassette sub-family A member 1 (ABCA1) is a member of the ABC family and functions to regulate phospholipid and cholesterol homeostasis. ABCA1, like most ABC transporters, contains two transmembrane domain bundles composed of six membrane-spanning helices and two nucleotide-binding domains. ABCA1 and its closest homolog, ABCA7, are 12A class members of ABCs, and both proteins function to transport cholesterol and phospholipids in an apolipoprotein A (apoA)-dependent manner (2,3). ABCA1 is expressed in a variety of tissues (4). Loss of function mutations in the human ABCA1 gene are linked to Tangier disease, a disorder characterized by high density lipoprotein (HDL) deficiency and cholesterol ester buildup in macrophages, as well as increased risk of atherosclerosis, consistent with ABCA1's function in maintaining cholesterol homeostasis and HDL formation (5-8). ABCA1 is also a candidate risk gene for late onset Alzheimer's disease (LOAD), a neurodegenerative disease that is also linked to altered cholesterol transport and metabolism (9). ABCA1 dysfunction may contribute directly to Alzheimer's disease (AD) pathogenesis by accelerating amyloid-β (Aβ) production, which is one of the pathological hallmarks of AD (9).