Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Natebus, M., Brancati, F., Wilcox, W.R., Muller, D., Kaplan, P.B., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., Clayton-Smith, J., Tassabehji, M., Steinmann, B., Barr, F.A., Nürnberg, P., Wieacker, P. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

Gerodermia osteodysplastica (GO) is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that GO is caused by loss-of-function mutations in SCYL1BP1, which is expressed at high levels in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a novel golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.

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