chromodomain-helicase-DNA-binding protein 8; CHD-8; ATP-dependent helicase CHD8; helicase with SNF2 domain 1 (CHD8 HELSNF1 KIAA1564)

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Function

DNA helicase
acts as a chromatin remodeling factor
regulates transcription
acts as a transcription repressor by remodeling chromatin structure & recruiting histone H1 to target genes
suppresses p53/TP53-mediated apoptosis by recruiting histone H1 & 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
role in both enhancer blocking & epigenetic remodeling via its interaction with CTCF
acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity
acts as a transcription activator via its interaction with ZNF143 by participating to efficient U6 RNA polymerase 3 transcription
sumoylated (putative)
interacts with p53/TP53, histone H1, CTNNB1, CTCF & PIAS3
component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 & RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, IN80C, KIAA1267, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 & TEX10

ATP + H2O = ADP + phosphate

the gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment & similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype