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TGFBI
Function
Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).
Involvement in disease
Corneal dystrophy, epithelial basement membrane
EBMD
A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Groenouw type 1
CDGG1
A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, lattice type 1
CDL1
A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Thiel-Behnke type
CDTB
A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Reis-Bucklers type
CDRB
A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, lattice type 3A
CDL3A
A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.
None
The disease is caused by variants affecting the gene represented in this entry.
Corneal dystrophy, Avellino type
CDA
A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833).
The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.
Tissue specificity
Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).
Cellular localization
- Secreted
- Secreted
- Extracellular space
- Extracellular matrix
- May be associated both with microfibrils and with the cell surface (PubMed:8077289).
Alternative names
- Transforming growth factor-beta-induced protein ig-h3
- Beta ig-h3
- Kerato-epithelin
- RGD-containing collagen-associated protein
- RGD-CAP
- TGFBI
- BIGH3
Database links
Target type
Proteins
Molecular weight
74681Da