TGFBI
Transforming growth factor, beta-induced, 68kDa | |||||||||||||
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File:PBB Protein TGFBI image.jpg PDB rendering based on 1x3b. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | TGFBI ; BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1 | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 37294 | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE TGFBI 201506 at tn.png | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a human gene.[1]
References
Further reading
- Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan". J. Hum. Genet. 46 (8): 431–5. PMID 11501939.
- Schmitt-Bernard CF, Pouliquen Y, Argilès A (2004). "[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis]". Journal français d'ophtalmologie. 27 (5): 510–22. PMID 15179309.
- Pieramici SF, Afshari NA (2006). "Genetics of corneal dystrophies: the evolving landscape". Current opinion in ophthalmology. 17 (4): 361–6. doi:10.1097/01.icu.0000233955.94347.84. PMID 16900028.
- Skonier J, Neubauer M, Madisen L; et al. (1992). "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". DNA Cell Biol. 11 (7): 511–22. PMID 1388724.
- LeBaron RG, Bezverkov KI, Zimber MP; et al. (1995). "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". J. Invest. Dermatol. 104 (5): 844–9. PMID 7738366.
- Skonier J, Bennett K, Rothwell V; et al. (1994). "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". DNA Cell Biol. 13 (6): 571–84. PMID 8024701.
- Escribano J, Hernando N, Ghosh S; et al. (1994). "cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium". J. Cell. Physiol. 160 (3): 511–21. doi:10.1002/jcp.1041600314. PMID 8077289.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Stone EM, Mathers WD, Rosenwasser GO; et al. (1994). "Three autosomal dominant corneal dystrophies map to chromosome 5q". Nat. Genet. 6 (1): 47–51. doi:10.1038/ng0194-47. PMID 8136834.
- Munier FL, Korvatska E, Djemaï A; et al. (1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935.
- Hashimoto K, Noshiro M, Ohno S; et al. (1997). "Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen". Biochim. Biophys. Acta. 1355 (3): 303–14. PMID 9061001.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Korvatska E, Munier FL, Djemaï A; et al. (1998). "Mutation hot spots in 5q31-linked corneal dystrophies". Am. J. Hum. Genet. 62 (2): 320–4. PMID 9463327.
- Yamamoto S, Okada M, Tsujikawa M; et al. (1998). "A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA". Am. J. Hum. Genet. 62 (3): 719–22. PMID 9497262.
- Okada M, Yamamoto S, Watanabe H; et al. (1998). "Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene". Am. J. Ophthalmol. 126 (2): 169–76. PMID 9727509.
- Okada M, Yamamoto S, Tsujikawa M; et al. (1998). "Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy". Am. J. Ophthalmol. 126 (4): 535–42. PMID 9780098.
- Fujiki K, Hotta Y, Nakayasu K; et al. (1998). "A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities". Hum. Genet. 103 (3): 286–9. PMID 9799082.
- Stewart H, Black GC, Donnai D; et al. (1999). "A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy". Ophthalmology. 106 (5): 964–70. doi:10.1016/S0161-6420(99)00539-4. PMID 10328397.
- Stewart HS, Ridgway AE, Dixon MJ; et al. (1999). "Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis". Hum. Mutat. 14 (2): 126–32. doi:10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. PMID 10425035.
- Rozzo C, Fossarello M, Galleri G; et al. (2000). "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". Hum. Mutat. 12 (3): 215–6. PMID 10660331.
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