Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4
Edward J. Andress, Michael Nicolaou, Marta R. Romero, Sandhia Naik, Peter H. Dixon, Catherine Williamson, Kenneth J. Linton – 12 December 2013 – ABCB4 flops phosphatidylcholine into the bile canaliculus to protect the biliary tree from the detergent activity of bile salts. Homozygous‐null ABCB4 mutations cause the childhood liver disease, progressive familial intrahepatic cholestasis, but cause and effect is less clear, with many missense mutations linked to less severe cholestatic diseases.