ABCA11P
ABCA11P: The Gene Behind a Range of Diseases
Description
ABCA11P, also known as the ATP-binding cassette subfamily A member 11B protein, is a gene located on chromosome 2q31.1. It encodes a protein that plays crucial roles in lipid metabolism and membrane transport. ABCA11P is expressed in various tissues, including the liver, intestine, and macrophages.
Associated Diseases
Mutations in the ABCA11P gene are linked to several inherited diseases, including:
- Sitosterolemia: A rare disorder characterized by the accumulation of cholesterol and plant sterols in the body, leading to skin rashes, abdominal pain, and liver dysfunction.
- Cholestasis: A condition where bile flow from the liver is impaired, resulting in jaundice, itching, and liver damage.
- Gallbladder disease: Mutations in ABCA11P can increase the risk of developing gallstones, which are hardened deposits of cholesterol and bile pigments in the gallbladder.
- Coronary artery disease: Some studies suggest that ABCA11P variants may be associated with an increased risk of heart disease.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by sitosterolemia, making it an extremely rare condition.
