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

Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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