3qk3 | pdb_00003qk3
From Proteopedia
Crystal structure of human beta-crystallin B3
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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. See AlsoReferences | ||||||||||||||||||||
This page was last modified 06:12, 8 June 2022.