The ABCA1 gene belongs to a group of genes called the ATP-binding cassette family. These genes provide instructions for making proteins that transport molecules across cell membranes. The ABCA1 protein is produced in many tissues, but high levels of this protein are found in the liver and in immune cells called macrophages.
The ABCA1 protein helps move cholesterol and certain fats called phospholipids across the cell membrane to the outside of the cell. These substances are then picked up by a protein called apolipoprotein A-I (apoA-I), which is produced from the APOA1 gene. ApoA-I, cholesterol, and phospholipids combine to make high-density lipoprotein (HDL), often referred to as “good cholesterol” because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease.
HDL carries cholesterol and phospholipids through the bloodstream from the body’s tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. The process of removing excess cholesterol from cells is extremely important for balancing cholesterol levels and maintaining cardiovascular health.
Other Names
ABC1; ABCA1_HUMAN; ATP binding cassette transporter 1; ATP-binding cassette 1; ATP-binding cassette, sub-family A (ABC1), member 1; CERP; cholesterol efflux regulatory protein; FLJ14958; HDLDT1; high density lipoprotein deficiency, Tangier type, 1; TGD
Related Genetics Topics
Identifiers
- NCBI Gene: 19
- OMIM: 600046
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
