transforming growth factor beta induced
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L TGFBI gene provides instructions for making a protein called transforming growth factor beta induced (TGFBI). This protein is released (secreted) from cells and becomes part of the extracellular matrix, which is an intricate network that forms in the spaces between cells and provides structural support to tissues. The TGFBI protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration). This protein is found in many tissues in the body, including the the clear, outer covering of the eye (the cornea).
Normal function
L TGFBI gene provides instructions for making a protein called transforming growth factor beta induced (TGFBI). This protein is released (secreted) from cells and becomes part of the extracellular matrix, which is an intricate network that forms in the spaces between cells and provides structural support to tissues. The TGFBI protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration). This protein is found in many tissues in the body, including the the clear, outer covering of the eye (the cornea).
Conditions referring to this gene or chromosome
Altri nomi
beta ig-h3
BGH3_HUMAN
BIGH3
CDB1
CDG2
CDGG1
CSD
CSD1
CSD2
CSD3
EBMD
kerato-epithelin
LCD1
RGD-CAP
RGD-containing collagen-associated protein
transforming growth factor, beta-induced, 68kDa
transforming growth factor-beta-induced protein ig-h3
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Ulteriori letture e riferimenti
- transforming growth factor beta induced; MedlinePlus, National Library of Medicine.
- Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331.
- Clout NJ, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis. 2003 Sep 11;9:440-8.
- Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006 Jul;27(7):615-25. doi: 10.1002/humu.20334.
- Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51. doi: 10.1038/ng0397-247.
- Schmitt-Bernard CF, Chavanieu A, Derancourt J, Arnaud B, Demaille JG, Calas B, Argiles A. In vitro creation of amyloid fibrils from native and Arg124Cys mutated betaIGH3((110-131)) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem Biophys Res Commun. 2000 Jul 5;273(2):649-53. doi: 10.1006/bbrc.2000.2955.
- Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X. Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. Mol Vis. 2010 Jun 30;16:1186-93.
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