ABCB6
ABC16: An Overview
Description
ABC16 (ATP-binding cassette subfamily B member 16) is a protein that plays a crucial role in cellular lipid transport. It is located on the cell membrane and transports lipids across the membrane, enabling the cell to regulate its lipid composition and maintain homeostasis. ABC16 is highly expressed in tissues with high lipid turnover, such as the liver, small intestine, and adipose tissue.
Associated Diseases
Mutations in the ABC16 gene have been linked to several diseases, including:
- Sitosterolemia: A rare inherited disorder characterized by the accumulation of plant sterols (sitosterol and campesterol) in the body. This can lead to the development of tendon xanthomas (yellowish deposits on the tendons), premature cardiovascular disease, and liver damage.
- Hypoalphalipoproteinemia: A condition characterized by low levels of high-density lipoprotein (HDL) cholesterol, the "good" cholesterol. This can increase the risk of cardiovascular disease.
- Chylomicronemia: A condition characterized by the accumulation of chylomicrons, a type of lipoprotein that transports dietary fats from the intestines to other parts of the body. This can lead to pancreatitis and other health problems.
- Bile acid synthesis disorders: ABC16 is involved in the transport of bile acids, which are synthesized in the liver and aid in the digestion of fats. Mutations in ABC16 can disrupt bile acid synthesis and lead to liver disease.
Did you Know ?
According to the National Institutes of Health (NIH), sitosterolemia, the most common disease associated with ABC16 mutations, affects approximately 1 in 50,000 people worldwide.
