Structural highlights
Disease
[CRBB3_HUMAN] Non-syndromic congenital cataract. Cataract, congenital, nuclear, autosomal recessive 2 (CATCN2) [MIM:609741]: A congenital cataract affecting the central nucleus of the eye. Nucler 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. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
Function
[CRBB3_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.
References
- ↑ Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6. PMID:15914629 doi:46/6/2100
