CFTR and cystic fibrosis: Similar to class II variations of ABCC7 encoding Cystic Fibrosis Transmembrane conductance Regulator (CFTR), the transporter involved in cystic fibrosis (CF), some ABCB11 missense variations (E297G, D482G, T1210P) have been shown to result in the expression of immature proteins which accumulate in the endoplasmic reticulum (ER), where they are likely to undergo ER-associated degradation (ERAD), whereas they retain their transport function [8,9].