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.
Original language | English |
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Pages (from-to) | 1410-1412 |
Number of pages | 3 |
Journal | Nature Genetics |
Volume | 40 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2008 |
ASJC Scopus subject areas
- Genetics