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.

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*
  • Mutation*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Protein Processing, Post-Translational

Substances

  • Membrane Proteins
  • SEC63 protein, human

Associated data

  • OMIM/173900
  • OMIM/173910
  • OMIM/174050