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

2008-12 | journal article

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​Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin​
Hennies, H. C.; Kornak, U. ; Zhang, H.; Egerer, J.; Zhang, X.; Seifert, W. & Kühnisch, J. et al.​ (2008) 
Nature Genetics, 40(12) pp. 1410​-1412​.​ DOI: https://doi.org/10.1038/ng.252 

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Authors
Hennies, Hans Christian; Kornak, Uwe ; Zhang, Haikuo; Egerer, Johannes; Zhang, Xin; Seifert, Wenke; Kühnisch, Jirko; Budde, Birgit; Nätebus, Marc; Brancati, Francesco; Wilcox, William R; Müller, Dietmar; Kaplan, Paige B; Rajab, Anna; Zampino, Giuseppe; Fodale, Valentina; Dallapiccola, Bruno; Newman, William; Metcalfe, Kay; Clayton-Smith, Jill; Tassabehji, May; Steinmann, Beat; Barr, Francis A; Nürnberg, Peter; Wieacker, Peter; Mundlos, Stefan
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.
Issue Date
December-2008
Journal
Nature Genetics 
ISSN
1061-4036
eISSN
1546-1718
Language
English

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