Function
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein.
Interactions
CHD4 has been shown to interact with HDAC1, Histone deacetylase 2, MTA2, SATB1 and Ataxia telangiectasia and Rad3 related.
Clinical
Mutations in this gene have been associated with a condition known as Sifrim-Hitz-Weiss syndrome. This condition is characterized by
- Brain anomalies
- Macrocephaly
- Deafness
- Ophthalmic abnormalities
- Dysmorphic features
- Congenital heart defects
- Hypogonadism in males
- Skeletal and limb anomalies
- Global developmental delay
- Mild to moderate intellectual disability
