2. Academic Validation
  3. Mutations in SEC63 cause autosomal dominant polycystic liver disease

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

Affiliation

  • 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.

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