ABCE1
Description
Abce1 is a protein that plays a crucial role in cellular cholesterol homeostasis and lipid metabolism. It is encoded by the gene ABCB1 (ATP-binding cassette sub-family B member 1), which is located on chromosome 7. Abce1 is expressed in various tissues, including the liver, intestines, adrenal glands, and immune cells.
At the cellular level, Abce1 is localized to the plasma membrane, where it functions as a lipid transporter. It facilitates the efflux of cholesterol and phospholipids from cells, contributing to the maintenance of cellular lipid balance. This process is essential for preventing the accumulation of excess cholesterol within cells, which can lead to cell dysfunction and disease.
Associated Diseases
Dysregulation of Abce1 function has been linked to several diseases and conditions, including:
- Tangier Disease: A rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol in the blood. Individuals with Tangier disease have mutations in the ABCB1 gene that impair Abce1 function, leading to the accumulation of cholesterol in various tissues.
- Atherosclerosis: A condition in which cholesterol-containing plaques form in the arteries, narrowing them and increasing the risk of heart attacks and strokes. Abce1 plays a protective role against atherosclerosis by facilitating the removal of excess cholesterol from cells lining the arteries.
- Sitosterolemia: A condition characterized by elevated levels of plant sterols (sitosterol and campesterol) in the blood. Abce1 is involved in the clearance of plant sterols from the body, and mutations in the ABCB1 gene can lead to the accumulation of these sterols, potentially causing liver damage.
- Cholestasis: A condition in which bile flow from the liver is impaired, leading to the accumulation of bile acids in the liver and blood. Abce1 contributes to the transport of bile acids from the liver into the bile, and mutations in the ABCB1 gene can disrupt this process, leading to cholestasis.
Did you Know ?
- Mutations in the ABCB1 gene are present in approximately 1 in 200 people worldwide, making it one of the most common genetic causes of Tangier disease.
