The CHD8 gene is located on the long arm of the 14th chromosome and is part of the chromodomain-helicase-DNA binding protein and binds to the beta-catenin for ATP-dependent chromatin remodelling.
Research suggests that loss of CHD8 function disrupts the expression of genes regulated by CHD8. This gene regulation is involved in gene co-expression networks in the fetal and developing brain, and may regulate other ASD risk genes due to its chromatin remodelling and transcriptional regulation (Cotney 2015).