ABCC2 : ATP binding cassette subfamily C member 2

The Intriguing Role of the ABCC2 Gene: Understanding Drug Metabolism and Bilirubin Transport

Description:

The human body is a complex biological machine, with countless genes orchestrating its intricate functions. Among these genes, ABCC2 stands out as a pivotal player in the transportation of substances across cell membranes. This gene provides the blueprint for a specialized protein known as multidrug resistance protein 2 (MRP2), responsible for protecting cells from harmful substances and assisting in drug metabolism.

Associated Diseases:

MRP2's importance is highlighted by its involvement in various health conditions. Mutations in the ABCC2 gene can lead to Dubin-Johnson syndrome, a rare disorder characterized by hyperbilirubinemia, a condition where bilirubin accumulates in the blood, causing jaundice (yellowing of the skin and eyes). Moreover, impaired MRP2 function has been linked to certain liver diseases and cholestatic conditions.

Did you Know ?

MRP2 is predominantly expressed in the outer membrane of liver cells, accounting for approximately 80% of its total expression. The remaining 20% is distributed across other tissues, including the kidneys, intestine, and placenta, where it plays essential roles in substance transport.