2vxp | pdb_00002vxp
The fourth FAS1 domain structure of human Bigh3
Structural highlights
DiseaseBGH3_HUMAN Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820; also known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is 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. Although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance have been identified.[1] Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900; also known as corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification of the cornea leading to severe visual handicap.[2] Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:122200. Inheritance is autosomal dominant. Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082; also known as corneal dystrophy of Bowman layer type 2 (CDB2). Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470; also known as corneal dystrophy of Bowman layer type 1 (CDB1).[3] [4] [5] Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:608471. 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.[6] [7] Defects in TGFBI are the cause of Avellino corneal dystrophy (ACD) [MIM:607541. ACD could be considered a variant of granular dystrophy with a significant amyloidogenic tendency. Inheritance is autosomal dominant. FunctionBGH3_HUMAN Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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