CHD7 Proteins and Enzymes

Human CHD7 is a chromodomain helicase DNA-binding protein and mutations in the CHD7 gene are a major cause of CHARGE syndrome. CHARGE syndrome is a well characterized multiple-malformation syndrome with distinctive diagnostic critera. Anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation.