The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]

  • Protein targeting
  • Transforming growth factor beta receptor signaling pathway
  • Protein secretion
  • Supramolecular fiber organization
  • Weill-marchesani syndrome 3
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
  • Glaucoma 3, primary congenital, d
  • Glaucoma 3, primary congenital, a
  • Weill-marchesani syndrome 1

Gene Location