Description
Key facts
Cell type:HEK-293,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,
Mutation description:Knockout achieved by CRISPR/Cas9 X = 1 bp insertion Frameshift: 99.82%
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-CHD8, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions--196°C, -80°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
CHD8 also known as Chromodomain Helicase DNA-binding Protein 8 is a member of the ATP-dependent chromatin remodeling proteins with an approximate mass of 290 kDa. This protein plays a critical role in maintaining chromatin structure by modulating the accessibility of DNA to transcription factors and repair machinery. CHD8 is ubiquitously expressed with notable presence in the brain and other tissues. Through its ability to regulate gene expression CHD8 influences several cellular processes including embryonic development and neural function.
Biological function summary
CHD8 acts as a chromatin remodeler involved in transcriptional regulation. It associates with multiprotein complexes such as the SWI/SNF complex to control gene expression finely. CHD8 can directly bind to promoter regions of target genes impacting their transcriptional activity. In neural development CHD8 contributes to cell differentiation axon guidance and synaptic connectivity highlighting its significance in cognitive functions.
Pathways
CHD8 is involved in critical pathways regulating cellular proliferation and differentiation. Notably it participates in the Wnt signaling pathway and interacts with factors like β-catenin to regulate the transcription of Wnt-responsive genes. CHD8 also interacts with proteins such as CTNNB1 and TCF7L2 demonstrating its role in the modulation of signaling pathways essential for developmental processes and cellular homeostasis.
CHD8 mutations have been implicated in autism spectrum disorder (ASD) and intellectual disabilities. Aberrations in CHD8 function can result in dysregulated gene expression contributing to neurological development problems. Furthermore the protein's interactions with targets like FOXG1 and TBR1 reinforce its connection to the etiology of ASD. Understanding CHD8's role in these disorders may offer insight into potential therapeutic targets for ameliorating symptoms associated with its dysfunction.
