The CHD8 gene encodes an ATP-dependent helicase enzyme that regulates gene transcription. It carries out its function by remodeling chromatin structure and recruiting histone H1 to target genes. The enzyme thus plays a role in the negative regulation of the Wnt signaling pathway and the fibroblast apoptotic process, and is an important factor in embryonic development, especially the development of the brain and digestive tract.
Mutations in the gene have been associated with susceptibility to Autism 18 (AUTS18), a subset of the Autism Spectrum disorder, wherein affected individuals exhibit macrocephaly, intellectual disability and gastrointestinal manifestations.