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

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Author information

1
Department 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
DOI:
10.1038/ng1357
[Indexed for MEDLINE]

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