Mutations in SEC63 cause autosomal dominant polycystic liver disease.
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.
Davila
Sonia
S
Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.
Furu
Laszlo
L
Gharavi
Ali G
AG
Tian
Xin
X
Onoe
Tamehito
T
Qian
Qi
Q
Li
Airong
A
Cai
Yiqiang
Y
Kamath
Patrick S
PS
King
Bernard F
BF
Azurmendi
Pablo J
PJ
Tahvanainen
Pia
P
Kääriäinen
Helena
H
Höckerstedt
Krister
K
Devuyst
Olivier
O
Pirson
Yves
Y
Martin
Rodolfo S
RS
Lifton
Richard P
RP
Tahvanainen
Esa
E
Torres
Vicente E
VE
Somlo
Stefan
S
D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D004721:Endoplasmic Reticulum / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011499:Protein Processing, Post-Translational; D016601:RNA-Binding Proteins
D008565:Membrane Proteins; D018832:Molecular Chaperones; D016601:RNA-Binding Proteins; C487464:SEC63 protein, human