Gene ABCA1
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Also known as
ABC1, CERP, TGD, ABC-1, HDLDT1Overview
ABCA1 (ATP Binding Cassette Subfamily A Member 1) encodes a membrane transporter protein that plays a critical role in cholesterol and phospholipid efflux from cells. It is essential for the formation of high-density lipoprotein (HDL) particles and reverse cholesterol transport, the process by which excess cholesterol is removed from peripheral tissues and transported to the liver for excretion.Mutations in ABCA1 are associated with Tangier disease, a rare inherited disorder characterized by severely reduced HDL cholesterol levels, enlarged orange-colored tonsils, and accumulation of cholesterol in various tissues. Heterozygous carriers of ABCA1 mutations may have moderately reduced HDL levels and increased cardiovascular risk.
Understanding your ABCA1 genetic status can provide insights into your lipid metabolism and cardiovascular health risk. Lifestyle modifications including regular exercise and dietary changes may help optimize HDL function in individuals with certain ABCA1 variants.