3qk3
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Crystal structure of human beta-crystallin B3Crystal structure of human beta-crystallin B3
Structural highlights
DiseaseCRBB3_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] FunctionCRBB3_HUMAN Crystallins are the dominant structural components of the vertebrate eye lens. See AlsoReferences |
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