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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.

Original publication

DOI

10.1038/ng.252

Type

Journal article

Journal

Nat Genet

Publication Date

12/2008

Volume

40

Pages

1410 - 1412

Keywords

Bone Diseases, Carrier Proteins, Chromosomes, Human, Pair 1, Female, Humans, Infant, Male, Pedigree, Skin Diseases, Genetic, rab GTP-Binding Proteins