MDR3 defects are involved in the development of PFIC3, LPAC, ICP, and DILI. Sterolin 1/2 are cotransporters that transport plant sterols and can lead to sitosterolemia if mutated. MRP2 is responsible ...
Sitosterolemia is a rare inherited disease in which plant-derived sterols (sitosterol) accumulate in the body and lead to premature atherosclerotic plaques. The disease is caused by mutations in ...