3qk3

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[[Image:3qk3.jpg|left|200px]]
 
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{{STRUCTURE_3qk3| PDB=3qk3 | SCENE= }}
{{STRUCTURE_3qk3| PDB=3qk3 | SCENE= }}
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===Crystal structure of human beta-crystallin B3===
===Crystal structure of human beta-crystallin B3===
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==Disease==
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[[http://www.uniprot.org/uniprot/CRBB3_HUMAN CRBB3_HUMAN]] Non-syndromic congenital cataract. Cataract, congenital, nuclear, autosomal recessive 2 (CATCN2) [MIM:[http://omim.org/entry/609741 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.<ref>PMID:15914629</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/CRBB3_HUMAN CRBB3_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens.
==About this Structure==
==About this Structure==
[[3qk3]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3QK3 OCA].
[[3qk3]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3QK3 OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Arrowsmith, C H.]]
[[Category: Arrowsmith, C H.]]
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[[Category: Weigelt, J.]]
[[Category: Weigelt, J.]]
[[Category: Yue, W W.]]
[[Category: Yue, W W.]]
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[[Category: Beta b3]]
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[[Category: Cataract]]
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[[Category: Crybb3]]
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[[Category: Crystallin]]
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[[Category: Eye lens protein]]
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[[Category: Sgc]]
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[[Category: Structural genomic]]
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[[Category: Structural genomics consortium]]
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[[Category: Structural protein]]

Revision as of 08:32, 8 May 2013

Template:STRUCTURE 3qk3

Contents

Crystal structure of human beta-crystallin B3

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.

About this Structure

3qk3 is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ 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

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