ABCB9
ABC-B9: A Comprehensive Guide to the Gene Variant
Description
ABC-B9, short for ATP-binding cassette subfamily B member 9, is a gene that encodes a protein known as the multidrug resistance-associated protein 1 (MDR1). This protein is expressed in the liver, intestine, and other tissues, and plays a crucial role in transporting molecules across cell membranes.
Associated Diseases
Variations in the ABC-B9 gene have been linked to several diseases, including:
- Dubin-Johnson syndrome: A rare liver disorder characterized by conjugated hyperbilirubinemia, a condition where the liver fails to properly remove bilirubin from the blood, leading to jaundice.
- Gilbert‘s syndrome: A common liver disorder characterized by mild hyperbilirubinemia, which often causes no symptoms.
- Cholestasis: A condition where the flow of bile from the liver and gallbladder is obstructed, leading to a buildup of bile acids in the liver.
- Neonatal cholestasis: A condition where bile flow is disrupted in newborns, causing jaundice and other liver problems.
- Drug resistance: Mutations in the ABC-B9 gene have been linked to resistance to certain chemotherapy drugs, such as doxorubicin and paclitaxel.
Did you Know ?
Around 1 in 2,000 people worldwide have a mutation in the ABC-B9 gene that results in Dubin-Johnson syndrome.
