TGFBI
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.[1][2]
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.[1]
Clinical significance
Mutations of the gene cause several forms of corneal dystrophies.[3][4]
References
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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