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 Torres; Stefan Somlo

doi:10.1038/ng1357

Mutations in SEC63 cause autosomal dominant polycystic liver disease

Nat Genet. 2004 Jun;36(6):575-7. doi: 10.1038/ng1357. Epub 2004 May 9.

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.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Chromosomes, Human, Pair 6 / genetics
DNA Mutational Analysis
Endoplasmic Reticulum / metabolism
Humans
Membrane Proteins / genetics*
Molecular Chaperones
Mutation*
Polycystic Kidney, Autosomal Dominant / genetics*
Protein Processing, Post-Translational
RNA-Binding Proteins

Substances

Membrane Proteins
Molecular Chaperones
RNA-Binding Proteins
SEC63 protein, human

Associated data

OMIM/173900
OMIM/173910
OMIM/174050