Protein transport into the endoplasmic reticulum: mechanisms and pathologies.

Abstract:

:Transport into the endoplasmic reticulum (ER) is the crucial step in the biosynthesis of most secretory proteins and many membrane proteins. The products of the SIL1, SEC62 and SEC63 genes act in concert with the SEC61 complex and the molecular chaperones BiP and GRP170 to transport proteins into the ER. Interestingly, recent genetic work has linked mutations in the human and murine SIL1 genes to neurodegeneration, and mutations in the human SEC63 gene to autosomal dominant polycystic liver disease. Furthermore, mutations in the SEC63 gene and overexpression of the SEC62 gene are associated with various human cancers. Therefore, we suggest that these diseases should be considered to be pathologies of protein transport into the ER rather than protein-folding diseases.

journal_name

Trends Mol Med

authors

Zimmermann R,Müller L,Wullich B

doi

10.1016/j.molmed.2006.10.004

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

567-73

issue

12

eissn

1471-4914

issn

1471-499X

pii

S1471-4914(06)00240-1

journal_volume

12

pub_type

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