Back to your search result

Description

Chromodomain-helicase-DNA-binding protein 8 (UniProt: Q09XV5, also known as EC:3.6.4.12, CHD-8, ATP-dependent helicase CHD8, Axis duplication inhibitor, Duplin) is encoded by the Chd8 (also known as Kiaa1564) gene (Gene ID: 67772) in murine species. CHD8 is a DNA helicase that acts as a chromatin remodeling factor and regulates transcription. It is expressed predominantly from early- to mid-stage mouse embryogenesis and is detected throughout embryos from 7.5 to 9.5 dpc. It localizes to the promoter regions of several &beta,-catenin responsive genes and acts as a negative regulator of Wnt signaling pathway by regulating &beta,-catenin activity. CHD8 is also reported to suppress p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Homozygous deletion of Chd8 gene in mice is reported to result in early embryonic death. Reduced expression of Chd8 gene has been associated with abnormal activation of RE-1 silencing transcription factor (REST), which suppresses the transcription of many neuronal genes. Mice heterozygous for Chd8 mutations exhibit myelination defects and manifest autism spectrum disorder (ASD) with behavioral characteristics that include increased anxiety, repetitive behavior, and altered social behavior. They also exhibit myelination defects Two isoforms of CHD-8 have been reported that are produced by alternative splicing. They are described as a full-length CHD-8L and a CHD-8S that contains only the NH2-terminal chromodomain. (Ref.: Kawamura, A., et al. (2021). Cell Rep. 35(1),108932, Katayama, Y., et al. (2016). Nature. 537(7622), 675-679, Nishiyama, M., et al. (2009). Nat. Cell Biol. 11(2), 172-182).