ABCC12
Title: ABCB12: A Multifaceted Protein with Diverse Roles in Health and Disease
Description:
ABC subfamily B member 12 (ABCB12) is a membrane-bound protein with ATP-binding cassette (ABC) transporter functionality. It is encoded by the ABCB12 gene located on chromosome 2q36.3. ABCB12 is primarily expressed in the liver, but it is also found in various tissues and organs, including the placenta, brain, and intestines.
Functions:
ABCB12 plays a crucial role in transporting lipids, cholesterol, and drugs across cell membranes. It is also involved in the bile acid synthesis pathway. The protein's ability to regulate the movement of these substances across biological barriers has significant implications for drug disposition, lipid metabolism, and liver function.
Associated Diseases:
Alterations in ABCB12 expression or function have been linked to several diseases:
- Cholestasis: Impaired ABCB12 function disrupts bile acid transport, leading to liver inflammation and cholestasis.
- Hypercholesterolemia: ABCB12 is involved in cholesterol transport and excretion. Mutations in the ABCB12 gene have been associated with familial hypercholesterolemia.
- Inflammatory Diseases: Mutations in ABCB12 have been linked to increased susceptibility to inflammatory diseases such as Crohn's disease and ulcerative colitis.
- Hepatocellular Carcinoma (HCC): Reduced ABCB12 expression has been observed in HCC, suggesting its role in tumor suppression.
Did you Know ?
Approximately 1 in 100 people worldwide have a mutation in the ABCB12 gene. These mutations can range from rare variants to common polymorphisms, and their impact on health can vary depending on the specific genetic alteration.
