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Mouse Anti-CHD8 Recombinant Antibody (4F2) (CBMAB-C10956-LY)

The product is antibody recognizes CHD8. The antibody 4F2 immunoassay techniques such as: WB, IP, ELISA.
See all CHD8 antibodies

Summary

Host Animal
Mouse
Specificity
Mouse, Rat, Human
Clone
4F2
Antibody Isotype
IgG
Application
WB, IP, ELISA

Basic Information

Specificity
Mouse, Rat, Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Chromodomain Helicase DNA Binding Protein 8
Introduction
This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Entrez Gene ID
Human57680
Mouse67772
Rat65027
UniProt ID
HumanQ9HCK8
MouseQ09XV5
RatQ9JIX5
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 in efficient U6 RNA polymerase III transcription.
Biological Process
ATP-dependent chromatin remodeling Source: UniProtKB
Brain development Source: GO_Central
Digestive tract development Source: GO_Central
In utero embryonic development Source: Ensembl
Negative regulation of canonical Wnt signaling pathway Source: UniProtKB
Negative regulation of fibroblast apoptotic process Source: Ensembl
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: GO_Central
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Positive regulation of transcription by RNA polymerase III Source: UniProtKB
Prepulse inhibition Source: Ensembl
Social behavior Source: Ensembl
Wnt signaling pathway Source: UniProtKB-KW
Cellular Location
Nucleus. Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.
Involvement in disease
Autism 18 (AUTS18): A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
PTM
Sumoylated.

Weissberg, O., & Elliott, E. (2021). The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders. Genes, 12(8), 1133.

Niosi, A. (2021). Determining gastrointestinal phenotypes caused by the autism-associated chromatin modifier, Chromodomain Helicase DNA binding protein 8 in Drosophila melanogaster (Doctoral dissertation, California State University, Sacramento).

Modafferi, S., Zhong, X., Kleensang, A., Murata, Y., Fagiani, F., Pamies, D., ... & Smirnova, L. (2021). Gene–environment interactions in developmental neurotoxicity: A case study of synergy between chlorpyrifos and chd8 knockout in human brainspheres. Environmental health perspectives, 129(7), 077001.

Lee, C. Y., Petkova, M., Morales‐Gonzalez, S., Gimber, N., Schmoranzer, J., Meisel, A., ... & Schwarz, J. M. (2020). A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. Neuropathology and applied neurobiology, 46(6), 588-601.

An, Y., Zhang, L., Liu, W., Jiang, Y., Chen, X., Lan, X., ... & Shen, Y. (2020). De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. Human genetics, 139(4), 499-512.

Jiménez, J. A., Ptacek, T. S., Tuttle, A. H., Schmid, R. S., Moy, S. S., Simon, J. M., & Zylka, M. J. (2020). Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life. Molecular autism, 11(1), 1-15.

Douzgou, S., Liang, H. W., Metcalfe, K., Somarathi, S., Tischkowitz, M., Mohamed, W., ... & Banka, S. (2019). The clinical presentation caused by truncating CHD8 variants. Clinical genetics, 96(1), 72-84.

Wade, A. A., Lim, K., Catta-Preta, R., & Nord, A. S. (2019). Common CHD8 genomic targets contrast with model-specific transcriptional impacts of CHD8 haploinsufficiency. Frontiers in molecular neuroscience, 11, 481.

Xu, Q., Liu, Y. Y., Wang, X., Tan, G. H., Li, H. P., Hulbert, S. W., ... & Jiang, Y. H. (2018). Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Molecular autism, 9(1), 1-17.

Wang, P., Mokhtari, R., Pedrosa, E., Kirschenbaum, M., Bayrak, C., Zheng, D., & Lachman, H. M. (2017). CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells. Molecular autism, 8(1), 11.

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For research use only. Not intended for any clinical use.

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