| Modification Notes |
Chromodomain-helicase-DNA-binding protein 7 (CHD7) is a 2997 amino acid member of the SNF2/RAD54 helicase family of proteins and contains two chromo domains, one helicase ATP-binding domain and one helicase C-terminal domain. Highly expressed in both fetal and adult brain, CHD7 is thought to be a potential transcription regulator. Mutations in the gene encoding CHD7 have been shown to cause CHARGE syndrome, a common cause of congenital anomalies, including choanal atresia and malformations of the heart, inner ear and retina. Defects in the CHD7 gene has also been linked to increased susceptibility to idiopathic scoliosis, the most common spinal deformity in children. Two isoforms of CHD7 exist as a result of alternative splicing events. |