2v0e: Difference between revisions

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|ACTIVITY=  
|ACTIVITY=  
|GENE=  
|GENE=  
|DOMAIN=
|RELATEDENTRY=[[2ckc|2CKC]], [[2v0f|2V0F]]
|RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2v0e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2v0e OCA], [http://www.ebi.ac.uk/pdbsum/2v0e PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2v0e RCSB]</span>
}}
}}


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==Overview==
==Overview==
CHD7 is a member of the chromodomain helicase DNA binding domain (CHD) family of ATP-dependent chromatin remodelling enzymes. It is mutated in CHARGE syndrome, a multiple congenital anomaly condition. CHD7 is one of a subset of CHD proteins, unique to metazoans that contain the BRK domain, a protein module also found in the Brahma/BRG1 family of helicases. We describe here the NMR solution structure of the two BRK domains of CHD7. Each domain has a compact betabetaalphabeta fold. The second domain has a C-terminal extension consisting of two additional helices. The structure differs from those of other domains present in chromatin-associated proteins.
CHD7 is a member of the chromodomain helicase DNA binding domain (CHD) family of ATP-dependent chromatin remodelling enzymes. It is mutated in CHARGE syndrome, a multiple congenital anomaly condition. CHD7 is one of a subset of CHD proteins, unique to metazoans that contain the BRK domain, a protein module also found in the Brahma/BRG1 family of helicases. We describe here the NMR solution structure of the two BRK domains of CHD7. Each domain has a compact betabetaalphabeta fold. The second domain has a C-terminal extension consisting of two additional helices. The structure differs from those of other domains present in chromatin-associated proteins.
==Disease==
Known diseases associated with this structure: CHARGE syndrome OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892 608892]], Scoliosis, idiopathic 3 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892 608892]]


==About this Structure==
==About this Structure==
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[[Category: transcription regulation]]
[[Category: transcription regulation]]


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