TGFBI


Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.

Function

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion.

Clinical significance

Mutations of the gene cause several forms of corneal dystrophies.
File:Mutated transforming growth factor beta induced protein in the superficial corneal stroma.jpg|thumb|left|Corneal dystrophy of [Bowman layer, type I|Reis-Bücklers corneal dystrophy]. Light microscopy of cornea showing characteristic red stained deposits of mutated TGFBI protein in the superficial corneal stroma. Masson's trichrome stain.