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Description

Chromodomain-helicase-DNA-binding protein 8 (UniProt: Q9HCK8, also known as EC: 3.6.4.12, CHD-8, ATP-dependent helicase CHD8, Helicase with SNF2 domain 1) is encoded by the CHD8 (also known as HELSNF1, KIAA1564) gene (Gene ID: 57680) in human. CHD-8 is a member of the SNF2/RAD54 helicase family. Two isoforms of CHD-8 have been reported that are produced by alternative splicing. It is a DNA helicase that acts as a chromatin remodeling factor and regulates transcription. It also acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. CHD-8 is reported to suppress p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity and also acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin activity. It negatively regulates beta-catenin-targeted gene expression by being recruited specifically to the promoter regions of several beta-catenin responsive genes. CHD-8 is involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Mutations in CHD8 gene are associated with Autism 18 that is characterized by impairments in reciprocal social interaction and communication and developmental abnormalities.