Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.
Hennies
Hans Christian
HC
Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Kornak
Uwe
U
Zhang
Haikuo
H
Egerer
Johannes
J
Zhang
Xin
X
Seifert
Wenke
W
Kühnisch
Jirko
J
Budde
Birgit
B
Nätebus
Marc
M
Brancati
Francesco
F
Wilcox
William R
WR
Müller
Dietmar
D
Kaplan
Paige B
PB
Rajab
Anna
A
Zampino
Giuseppe
G
Fodale
Valentina
V
Dallapiccola
Bruno
B
Newman
William
W
Metcalfe
Kay
K
Clayton-Smith
Jill
J
Tassabehji
May
M
Steinmann
Beat
B
Barr
Francis A
FA
Nürnberg
Peter
P
Wieacker
Peter
P
Mundlos
Stefan
S
D001847:Bone Diseases / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D000077614:Golgi Matrix Proteins; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000378:metabolism
D002352:Carrier Proteins; C533680:GORAB protein, human; D000077614:Golgi Matrix Proteins; C094135:Rab6 protein; D020691:rab GTP-Binding Proteins