title: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
abstract: 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.
authors.affiliation: Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
authors.forename: Hans Christian
authors.initials: HC
authors.lastname: Hennies
authors.forename: Uwe
authors.initials: U
authors.lastname: Kornak
authors.forename: Haikuo
authors.initials: H
authors.lastname: Zhang
authors.forename: Johannes
authors.initials: J
authors.lastname: Egerer
authors.forename: Xin
authors.initials: X
authors.lastname: Zhang
authors.forename: Wenke
authors.initials: W
authors.lastname: Seifert
authors.forename: Jirko
authors.initials: J
authors.lastname: Kühnisch
authors.forename: Birgit
authors.initials: B
authors.lastname: Budde
authors.forename: Marc
authors.initials: M
authors.lastname: Nätebus
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: Dietmar
authors.initials: D
authors.lastname: Müller
authors.forename: Paige B
authors.initials: PB
authors.lastname: Kaplan
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
authors.forename: Valentina
authors.initials: V
authors.lastname: Fodale
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: William
authors.initials: W
authors.lastname: Newman
authors.forename: Kay
authors.initials: K
authors.lastname: Metcalfe
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: May
authors.initials: M
authors.lastname: Tassabehji
authors.forename: Beat
authors.initials: B
authors.lastname: Steinmann
authors.forename: Francis A
authors.initials: FA
authors.lastname: Barr
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; C533680:GORAB protein, human; D000077614:Golgi Matrix Proteins; C094135:Rab6 protein; D020691:rab GTP-Binding Proteins