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Structural highlights

Disease

[CRBB1_HUMAN] Defects in CRYBB1 are the cause of cataract congenital nuclear autosomal recessive type 3 (CATCN3) [MIM:611544]. A congenital cataract affecting the central nucleus of the eye. Nuclear cataracts are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders.^[1] Defects in CRYBB1 are a cause of cataract-microcornea syndrome (CAMIS) [MIM:116150]. An ocular disorder characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described.^[2] [:]

Function

[CRBB1_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Crystallin 3D structures

References

1. ↑ Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13. PMID:17460281 doi:48/5/2208
2. ↑ Willoughby CE, Shafiq A, Ferrini W, Chan LL, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Heon E. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005 Aug 8;11:587-93. PMID:16110300
3. ↑ Van Montfort RL, Bateman OA, Lubsen NH, Slingsby C. Crystal structure of truncated human betaB1-crystallin. Protein Sci. 2003 Nov;12(11):2606-12. PMID:14573871