Gene: TGFBI

Alternate names for this Gene: BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: transforming growth factor beta induced

Type of Gene: protein-coding

rs13159365 in TGFBI gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs13168506 in TGFBI gene and Cerebrovascular accident PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.

rs121909212 in TGFBI gene and Corneal Dystrophy, Lattice Type IIIA PMID 15790870 2005 Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

PMID 9497262 1998 A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

rs121909212 in TGFBI gene and Corneal dystrophy PMID 11004271 2000 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

PMID 21462384 2011 Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

PMID 12400061 2002 Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

PMID 23884333 2013 Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy.

PMID 9497262 1998 A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

PMID 16809844 2006 A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

PMID 26748743 2016 Mutational spectrum of Korean patients with corneal dystrophy.

rs121909216 in TGFBI gene and Corneal dystrophy, epithelial basement membrane PMID 16652336 2006 A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

rs121909208 in TGFBI gene and Groenouw corneal dystrophy type I (disorder) PMID 15623763 2005 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

rs121909210 in TGFBI gene and Lattice corneal dystrophy Type I PMID 10837380 2000 To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found.

PMID 14597039 2003 A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

PMID 15838722 2005 Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation.

PMID 16541014 2006 Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

PMID 9799082 1998 A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

PMID 15623763 2005 Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.

PMID 15531312 2004 Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.

PMID 17013691 2006 A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

PMID 11413411 2001 Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.

PMID 15623763 2005 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

PMID 10837380 2000 Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.

PMID 15838722 2005 Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

rs121909211 in TGFBI gene and Reis-Bucklers' corneal dystrophy PMID 9780098 1998 Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.

PMID 15623763 2005 In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.

PMID 10660331 1998 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.