transforming growth factor-beta-induced protein Ig-H3; beta Ig-H3; kerato-epithelin; RGD-containing collagen-associated protein; RGD-CAP (TGFBI, BIGH3)

Function

• adhesion protein
• binds to collagen type 1, collagen type 2, & collagen type 4
• may play a role in cell-collagen interactions
• in cartilage, may be involved in endochondral bone formation
• gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation
  • these residues are essential for the binding of Ca+2 (putative)

Structure

• contains 1 EMI domain

contains 4 FAS1 domains

Compartment

• secreted, extracellular space, extracellular matrix
• may be associated both with microfibrils & with the cell surface

Expression

• highly expressed in the corneal epithelium
• induced by TGFB1

Pathology

• defects in TGFBI are the cause of:
  • epithelial basement membrane corneal dystrophy
  • corneal dystrophy Groenouw type 1
  • corneal dystrophy lattice type 1
  • corneal dystrophy of Bowman layer type 1
  • lattice corneal dystrophy type 3A
  • Avellino corneal dystrophy
• defects in TGFBI are a cause of corneal dystrophy of Bowman layer type 2

More general terms

• secreted protein

Additional terms

• transforming growth factor [TGF]-beta

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7045
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7045
• OMIM: https://mirror.omim.org/entry/121820
• OMIM: https://mirror.omim.org/entry/121900
• OMIM: https://mirror.omim.org/entry/122200
• OMIM: https://mirror.omim.org/entry/601692
• OMIM: https://mirror.omim.org/entry/602082
• OMIM: https://mirror.omim.org/entry/607541
• OMIM: https://mirror.omim.org/entry/608470
• OMIM: https://mirror.omim.org/entry/608471
• UniProt: http://www.uniprot.org/uniprot/Q15582.html