2d9u

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[[Image:2d9u.png|left|200px]]
 
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{{STRUCTURE_2d9u| PDB=2d9u | SCENE= }}
{{STRUCTURE_2d9u| PDB=2d9u | SCENE= }}
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===Solution structure of the Chromo domain of chromobox homolog 2 from human===
===Solution structure of the Chromo domain of chromobox homolog 2 from human===
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==Disease==
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[[http://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN]] Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:[http://omim.org/entry/613080 613080]]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.<ref>PMID:19361780</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/CBX2_HUMAN CBX2_HUMAN]] Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.<ref>PMID:19361780</ref><ref>PMID:21282530</ref>
==About this Structure==
==About this Structure==
[[2d9u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D9U OCA].
[[2d9u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2D9U OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Inoue, M.]]
[[Category: Inoue, M.]]

Revision as of 05:49, 25 March 2013

Template:STRUCTURE 2d9u

Contents

Solution structure of the Chromo domain of chromobox homolog 2 from human

Disease

[CBX2_HUMAN] Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:613080]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.[1]

Function

[CBX2_HUMAN] Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression.[2][3]

About this Structure

2d9u is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009, Apr 9. PMID:19361780 doi:10.1016/j.ajhg.2009.03.016
  2. ↑ Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009, Apr 9. PMID:19361780 doi:10.1016/j.ajhg.2009.03.016
  3. ↑ Vandamme J, Volkel P, Rosnoblet C, Le Faou P, Angrand PO. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Mol Cell Proteomics. 2011 Apr;10(4):M110.002642. doi: 10.1074/mcp.M110.002642., Epub 2011 Jan 31. PMID:21282530 doi:10.1074/mcp.M110.002642

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