Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.
Febs Open Bio
Strøm, Thea Bismo TB; Tveten, Kristian K; Laerdahl, Jon K JK; Leren, Trond P TP