Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Nat Genet
; 36(6): 575-7, 2004 Jun.
Article
em En
| MEDLINE
| ID: mdl-15133510
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rim Policístico Autossômico Dominante
/
Proteínas de Membrana
/
Mutação
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article