3h91: Difference between revisions
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{{STRUCTURE_3h91| PDB=3h91 | SCENE= }} | {{STRUCTURE_3h91| PDB=3h91 | SCENE= }} | ||
===Crystal structure of the complex of human chromobox homolog 2 (CBX2) and H3K27 peptide=== | |||
{{ABSTRACT_PUBMED_21047797}} | |||
=== | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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== | ||
| Line 11: | Line 13: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:021047797</ref><references group="xtra"/> | <ref group="xtra">PMID:021047797</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Amaya, M F.]] | [[Category: Amaya, M F.]] | ||
