Display Settings:

Format

Send to:

Choose Destination
Nat Genet. 2004 Jun;36(6):575-7. Epub 2004 May 9.

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Author information

  • 1Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.

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.

PMID:
15133510
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk