ABCA9
abca9: A Gene Associated with Multiple Diseases
Description
ABCA9 (ATP-Binding Cassette, Subfamily A, Member 9) is a gene that encodes a protein involved in lipid transport and cholesterol homeostasis. It plays a crucial role in the transportation of phospholipids and cholesterol from the liver to the bloodstream. ABCA9 is primarily expressed in liver cells (hepatocytes), but it is also found in other tissues such as the intestines, kidneys, and lungs.
Associated Diseases
Mutations in the ABCA9 gene have been linked to several diseases, including:
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Sitosterolemia: A rare genetic disorder characterized by the accumulation of plant sterols (sitosterols) in the blood and tissues. This can lead to the development of xanthomas (fatty deposits) on the skin, as well as cardiovascular problems.
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Cholestasis: A condition in which the flow of bile from the liver to the intestines is blocked. This can cause jaundice (yellowing of the skin and eyes), itching, and fatigue.
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Hypercholesterolemia: A condition characterized by high levels of cholesterol in the blood.
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Coronary artery disease: A condition in which the arteries that supply blood to the heart become narrowed or blocked.
Did you Know ?
According to a study published in the journal "Circulation", individuals with mutations in the ABCA9 gene have a 2-fold increased risk of developing coronary artery disease.
