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: Hans Christian Hennies, 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
• Journal: Nature genetics (Nat Genet) Vol. 40 Issue 12 Pg. 1410-2 (Dec 2008) ISSN: 1546-1718 [Electronic] United States
• PMID: 18997784 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• GORAB protein, human
• Golgi Matrix Proteins
• Rab6 protein
• rab GTP-Binding Proteins

Topics

• Bone Diseases (genetics)
• Carrier Proteins (genetics, metabolism)
• Chromosomes, Human, Pair 1 (genetics)
• Female
• Golgi Matrix Proteins
• Humans
• Infant
• Male
• Pedigree
• Skin Diseases, Genetic (genetics)
• rab GTP-Binding Proteins (metabolism)