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Description

Apolipoprotein A-I (UniProt: P02647, also known as Apo-AI, ApoA-I, Apolipoprotein A1) is encoded by the APOA1 gene (Gene ID: 335) in human. Apo A-1 is a major protein of plasma high density lipoprotein (HDL) and is also found in chylomicrons. It plays a major role in transporting cholesterol from peripheral tissues to the liver. It is synthesized mainly in the liver with a signal peptide (aa 1-18), which is proteolytically cleaved to generate the mature protein. Apo A-1 also serves as a co-factor for lecithin cholesterolacyltransferase (LCAT) that is involved in the formation of cholesteryl esters. Elevated levels of oxidized Apo A-1 (on Methionine 110 and 136) have been linked to increased risk for coronary artery disease. Mutations in APOA1 gene have also been linked to HDL deficiencies that lead to premature coronary artery disease and a reduction in cellular cholesterol efflux. Mutations in APOA1 gene have also shown to result in amyloidosis with extensive visceral amyloid deposit and in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as familial amyloid polyneuropathy type III.