Entrez 7045 | Ensembl ENSG00000120708 | |
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Aliases TGFBI, BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced External IDs MGI: 99959 HomoloGene: 37294 GeneCards: TGFBI | ||
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.
Contents
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.
References
TGFBI Wikipedia(Text) CC BY-SA