CHD8 Rabbit Polyclonal Antibody

This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010], function:DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating to efficient U6 RNA polymerase III transcription., miscellaneous:Its gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype., PTM:Sumoylated., similarity:Belongs to the SNF2/RAD54 helicase family. CHD8 subfamily., similarity:Contains 1 helicase ATP-binding domain., similarity:Contains 1 helicase C-terminal domain., similarity:Contains 2 chromo domains., subcellular location:Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites., subunit:Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of a multiprotein complex of 900 kDa containing WDR5.