CHD proteins belong to a superfamily of proteins of ATP-dependent chromatin remodeling enzymes that have a unique combination of functional domains, including two N-terminal chromodomains, a SNF2-like ATPase/helicase domain and a DNA-binding domain. These proteins are thought to play a role in early embryonic development by affecting chromatin structure and gene expression. Mutations in one member of this family, CHD7, result in CHARGE syndrome. It colocalizes with embryonic stem (ES) cell master regulators OCT4/POU5F1, SOX2, and NANOG and is thought to modulate ES-specific gene transcription. Together with SOX2, CHD7 has been suggested to also regulate several human disease genes.