Mutations in SEC63 cause autosomal dominant polycystic liver disease

Sonia Davila, 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. TorresStefan Somlo

Research output: Contribution to journalArticlepeer-review

186 Scopus citations


Mutations in PRKCSH, encoding the β-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.

Original languageEnglish (US)
Pages (from-to)575-577
Number of pages3
JournalNature Genetics
Issue number6
StatePublished - Jun 2004

ASJC Scopus subject areas

  • Genetics


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