Mutations in SEC63 cause autosomal dominant polycystic liver disease

  • Nat Genet. 2004 Jun;36(6):575-7. doi: 10.1038/ng1357.
Sonia Davila  1 ,  Laszlo Furu ,  Ali G Gharavi ,  Xin Tian ,  Tamehito Onoe ,  Qi Qian ,  Airong Li ,  Yiqiang Cai ,  Patrick S Kamath ,  Bernard F King ,  Pablo J Azurmendi ,  Pia Tahvanainen ,  Helena Kääriäinen ,  Krister Höckerstedt ,  Olivier Devuyst ,  Yves Pirson ,  Rodolfo S Martin ,  Richard P Lifton ,  Esa Tahvanainen ,  Vicente E Torres ,  Stefan Somlo
Affiliations
  • 1. Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.
PMID: 15133510 DOI: 10.1038/ng1357
Abstract

Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic Liver Disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.