Gene Symbol | TGFBI |
Entrez Gene ID | 7045 |
Full Name | transforming growth factor beta induced |
Synonyms | BIGH3,CDB1,CDG2,CDGG1,CSD,CSD1,CSD2,CSD3,EBMD,LCD1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy, lattice type I, 122200 (3); Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Avellino type, 607541 (3); Corneal dystrophy, lattice type IIIA, 608471 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3); Corneal dystrophy, epithelial basement membrane, 121820 (3) |