9d1v

Structural highlights

Disease

CRBB2_HUMAN Cerulean cataract;Nuclear cataract;Cataract, Coppock-like;Cataract-microcornea syndrome;Total congenital cataract;Cataract with Y-shaped suture opacities. Cataract, congenital, cerulean type, 2 (CCA2) [MIM:601547: A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Note=The disease is caused by mutations affecting the gene represented in this entry.^[1] Cataract, sutural, with punctate and cerulean opacities (CSPC) [MIM:607133: A form of cataract characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects. Note=The disease is caused by mutations affecting the gene represented in this entry. Cataract Coppock-like (CCL) [MIM:604307: A congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. Note=The disease is caused by mutations affecting the gene represented in this entry.^[2]

Function

CRBB2_HUMAN Crystallins are the dominant structural components of the vertebrate eye lens.

References

1. ↑ Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6(5):665-8. PMID:9158139
2. ↑ Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):159-65. PMID:10634616