The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

  • Anatomical structure morphogenesis
  • Extracellular matrix organization
  • Embryonic limb morphogenesis
  • Positive regulation of bone mineralization
  • Limb morphogenesis
  • Contractural arachnodactyly, congenital
  • Macular degeneration, early-onset
  • Marfan syndrome
  • Connective tissue disease
  • Intracranial aneurysm