Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

@article{Strm2015MutationPI,
  title={Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.},
  author={Thea Bismo Str{\o}m and Jon Kristen Laerdahl and Trond P. Leren},
  journal={Human molecular genetics},
  year={2015},
  volume={24 20},
  pages={
          5836-44
        }
}
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH). The mechanism by which mutations in the LDLR affecting the transmembrane domain of the receptor cause FH has not been thoroughly investigated. In this study, we have selected 12 naturally occurring mutations affecting the transmembrane domain and studied their effect on the LDLR. The main strategy has been to transiently transfect HepG2 cells with mutant LDLR plasmids and to study the mutant… CONTINUE READING

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