3lwk
From Proteopedia
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{{STRUCTURE_3lwk| PDB=3lwk | SCENE= }} | {{STRUCTURE_3lwk| PDB=3lwk | SCENE= }} | ||
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===Crystal structure of human Beta-crystallin A4 (CRYBA4)=== | ===Crystal structure of human Beta-crystallin A4 (CRYBA4)=== | ||
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==Disease== | ==Disease== | ||
| - | + | [[http://www.uniprot.org/uniprot/CRBA4_HUMAN CRBA4_HUMAN]] Defects in CRYBA4 are the cause of cataract zonular type 2 (CZ2) [MIM:[http://omim.org/entry/610425 610425]]; also known as lamellar cataract 2. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.<ref>PMID:16960806</ref> Defects in CRYBA4 are a cause of microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:[http://omim.org/entry/610426 610426]]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataractand other abnormalities like cataract may also be present.<ref>PMID:16960806</ref> | |
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/CRBA4_HUMAN CRBA4_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens. | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3lwk]] is a 1 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=3LWK OCA]. | |
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith, C H.]] | [[Category: Arrowsmith, C H.]] | ||
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[[Category: Oxidation]] | [[Category: Oxidation]] | ||
[[Category: Phosphoprotein]] | [[Category: Phosphoprotein]] | ||
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[[Category: Sgc]] | [[Category: Sgc]] | ||
[[Category: Structural genomics consortium]] | [[Category: Structural genomics consortium]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Mar 17 09:48:00 2010'' | ||
Revision as of 16:31, 24 March 2013
Contents |
Crystal structure of human Beta-crystallin A4 (CRYBA4)
Disease
[CRBA4_HUMAN] Defects in CRYBA4 are the cause of cataract zonular type 2 (CZ2) [MIM:610425]; also known as lamellar cataract 2. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.[1] Defects in CRYBA4 are a cause of microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataractand other abnormalities like cataract may also be present.[2]
Function
[CRBA4_HUMAN] Crystallins are the dominant structural components of the vertebrate eye lens.
About this Structure
3lwk is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006 Oct;79(4):702-9. Epub 2006 Aug 17. PMID:16960806 doi:S0002-9297(07)63080-8
- ↑ Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006 Oct;79(4):702-9. Epub 2006 Aug 17. PMID:16960806 doi:S0002-9297(07)63080-8
Categories: Homo sapiens | Arrowsmith, C H. | Bountra, C. | Chaikuad, A. | Cocking, R. | Edwards, A M. | Krojer, T. | Muniz, J R.C. | Oppermann, U. | Pike, A C.W. | SGC, Structural Genomics Consortium. | Shafqat, N. | Vollmar, M. | Weigelt, J. | Yue, W W. | Beta-crystallin | Cataract | Disease mutation | Eye lens protein | Microphthalmia | Oxidation | Phosphoprotein | Sgc | Structural genomics consortium | Structural protein
