A diagram showing ABC transporters, their substrates, and the associated diseases that result from mutations in specific ABC transporters (IMAGE)
Caption
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 for the reuptake of conjugated bilirubin; mutations result in Dubin-Johnson syndrome. BSEP transports bile acids and is also located at the bile canalicular membrane. Mutations in this transporter are associated with PFIC2, BRIC2, ICP, and OCC. Created by BioRender. PFIC3, progressive familial intrahepatic cholestasis type 3; PFIC2, progressive familial intrahepatic cholestasis type 2; OCC, oral contraceptive-associated cholestasis; BRIC2, benign recurrent intrahepatic cholestasis type 2; DILI, drug-induced liver injury; ICP, intrahepatic cholestasis of pregnancy; LPAC, low phospholipid-associated cholestasis.
Credit
Danzhu Zhao
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CC BY-NC