1oki: Difference between revisions

<table><tr><td colspan='2'>[[1oki]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1OKI OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1OKI FirstGlance]. <br>

</td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=CSD:3-SULFINOALANINE'>CSD</scene></td></tr>

[[https://www.uniprot.org/uniprot/CRBB1_HUMAN CRBB1_HUMAN]] Defects in CRYBB1 are the cause of cataract congenital nuclear autosomal recessive type 3 (CATCN3) [MIM:[https://omim.org/entry/611544 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.<ref>PMID:17460281</ref>  Defects in CRYBB1 are a cause of cataract-microcornea syndrome (CAMIS) [MIM:[https://omim.org/entry/116150 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.<ref>PMID:16110300</ref> [:]  

[[https://www.uniprot.org/uniprot/CRBB1_HUMAN CRBB1_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.  

[[Category: Human]]

[[Category: Bateman, O A]]

[[Category: Lubsen, N H]]

[[Category: Montfort, R L.M van]]

[[Category: Slingsby, C]]

[[Category: Cataract]]

[[Category: Eye lens protein]]