2. Academic Validation
  3. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

  • Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252.
Hans Christian Hennies 1,  Uwe Kornak,  Haikuo Zhang,  Johannes Egerer,  Xin Zhang,  Wenke Seifert,  Jirko Kühnisch,  Birgit Budde,  Marc Nätebus,  Francesco Brancati,  William R Wilcox,  Dietmar Müller,  Paige B Kaplan,  Anna Rajab,  Giuseppe Zampino,  Valentina Fodale,  Bruno Dallapiccola,  William Newman,  Kay Metcalfe,  Jill Clayton-Smith,  May Tassabehji,  Beat Steinmann,  Francis A Barr,  Peter Nürnberg,  Peter Wieacker,  Stefan Mundlos
Affiliations

Affiliation

  • 1 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
PMID: 18997784 DOI: 10.1038/ng.252
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.

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