| 释义 |
- Function
- Clinical significance
- References
- Further reading
{{Infobox_gene}}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] References1. ^1 {{cite web | title = Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7045| accessdate = }}
2. ^{{cite journal | vauthors = Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF | title = Kerato-epithelin mutations in four 5q31-linked corneal dystrophies | journal = Nat. Genet. | volume = 15 | issue = 3 | pages = 247–51 |date=March 1997 | pmid = 9054935 | doi = 10.1038/ng0397-247 | url = | issn = }}
3. ^{{cite journal | vauthors = Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF | title = Mutation hot spots in 5q31-linked corneal dystrophies | journal = Am. J. Hum. Genet. | volume = 62 | issue = 2 | pages = 320–4 |date=February 1998 | pmid = 9463327 | pmc = 1376896 | doi = 10.1086/301720 | url = | issn = }}
4. ^{{cite journal | author = Klintworth GK | title = Corneal dystrophies | journal = Orphanet J Rare Dis | volume = 4 | issue = 1| pages = 7 | year = 2009 | pmid = 19236704 | pmc = 2695576 | doi = 10.1186/1750-1172-4-7 | url = | issn = }}
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Fujiki K, Nakayasu K, Kanai A |title=Corneal dystrophies in Japan. |journal=J. Hum. Genet. |volume=46 |issue= 8 |pages= 431–5 |year= 2001 |pmid= 11501939 |doi=10.1007/s100380170041 }}
- {{cite journal | vauthors=Schmitt-Bernard CF, Pouliquen Y, Argilès A |title=[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis] |journal=Journal français d'ophtalmologie |volume=27 |issue= 5 |pages= 510–22 |year= 2004 |pmid= 15179309 |doi=10.1016/S0181-5512(04)96173-6 }}
- {{cite journal | vauthors=Pieramici SF, Afshari NA |title=Genetics of corneal dystrophies: the evolving landscape. |journal=Current Opinion in Ophthalmology |volume=17 |issue= 4 |pages= 361–6 |year= 2006 |pmid= 16900028 |doi= 10.1097/01.icu.0000233955.94347.84 }}
- {{cite journal |vauthors=Skonier J, Neubauer M, Madisen L, etal |title=cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. |journal=DNA Cell Biol. |volume=11 |issue= 7 |pages= 511–22 |year= 1992 |pmid= 1388724 |doi=10.1089/dna.1992.11.511 }}
- {{cite journal |vauthors=LeBaron RG, Bezverkov KI, Zimber MP, etal |title=Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. |journal=J. Invest. Dermatol. |volume=104 |issue= 5 |pages= 844–9 |year= 1995 |pmid= 7738366 |doi=10.1111/1523-1747.ep12607024 }}
- {{cite journal |vauthors=Skonier J, Bennett K, Rothwell V, etal |title=beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. |journal=DNA Cell Biol. |volume=13 |issue= 6 |pages= 571–84 |year= 1994 |pmid= 8024701 |doi=10.1089/dna.1994.13.571 }}
- {{cite journal |vauthors=Escribano J, Hernando N, Ghosh S, etal |title=cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. |journal=J. Cell. Physiol. |volume=160 |issue= 3 |pages= 511–21 |year= 1994 |pmid= 8077289 |doi= 10.1002/jcp.1041600314 }}
- {{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
- {{cite journal |vauthors=Stone EM, Mathers WD, Rosenwasser GO, etal |title=Three autosomal dominant corneal dystrophies map to chromosome 5q. |journal=Nat. Genet. |volume=6 |issue= 1 |pages= 47–51 |year= 1994 |pmid= 8136834 |doi= 10.1038/ng0194-47 }}
- {{cite journal |vauthors=Munier FL, Korvatska E, Djemaï A, etal |title=Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. |journal=Nat. Genet. |volume=15 |issue= 3 |pages= 247–51 |year= 1997 |pmid= 9054935 |doi= 10.1038/ng0397-247 }}
- {{cite journal |vauthors=Hashimoto K, Noshiro M, Ohno S, etal |title=Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen. |journal=Biochim. Biophys. Acta |volume=1355 |issue= 3 |pages= 303–14 |year= 1997 |pmid= 9061001 |doi=10.1016/S0167-4889(96)00147-4 }}
- {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
- {{cite journal |vauthors=Korvatska E, Munier FL, Djemaï A, etal |title=Mutation hot spots in 5q31-linked corneal dystrophies. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 320–4 |year= 1998 |pmid= 9463327 |doi=10.1086/301720 | pmc=1376896 }}
- {{cite journal |vauthors=Yamamoto S, Okada M, Tsujikawa M, etal |title=A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 719–22 |year= 1998 |pmid= 9497262 |doi=10.1086/301765 | pmc=1376959 }}
- {{cite journal |vauthors=Okada M, Yamamoto S, Watanabe H, etal |title=Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. |journal=Am. J. Ophthalmol. |volume=126 |issue= 2 |pages= 169–76 |year= 1998 |pmid= 9727509 |doi=10.1016/S0002-9394(98)00075-0 }}
- {{cite journal |vauthors=Okada M, Yamamoto S, Tsujikawa M, etal |title=Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=126 |issue= 4 |pages= 535–42 |year= 1998 |pmid= 9780098 |doi=10.1016/S0002-9394(98)00135-4 }}
- {{cite journal |vauthors=Fujiki K, Hotta Y, Nakayasu K, etal |title=A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. |journal=Hum. Genet. |volume=103 |issue= 3 |pages= 286–9 |year= 1998 |pmid= 9799082 |doi=10.1007/s004390050818 }}
- {{cite journal |vauthors=Stewart H, Black GC, Donnai D, etal |title=A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. |journal=Ophthalmology |volume=106 |issue= 5 |pages= 964–70 |year= 1999 |pmid= 10328397 |doi= 10.1016/S0161-6420(99)00539-4 }}
- {{cite journal |vauthors=Stewart HS, Ridgway AE, Dixon MJ, etal |title=Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. |journal=Hum. Mutat. |volume=14 |issue= 2 |pages= 126–32 |year= 1999 |pmid= 10425035 |doi= 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W }}
- {{cite journal |vauthors=Rozzo C, Fossarello M, Galleri G, etal |title=A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 215–6 |year= 2000 |pmid= 10660331 |doi= }}
- {{cite journal | vauthors=Page L, Polok B, Bustamante M, Schorderet DF |title=Bigh3 is upregulated in regenerating zebrafish fin |journal=Zebrafish |volume=10 |issue= 3 |pages= 36–42 |year= 2013 |doi=10.1089/zeb.2012.0759 }}
{{refend}}{{PDB Gallery|geneid=7045}}{{NLM content}}{{gene-5-stub}} 1 : Extracellular matrix proteins |