CHD2
Domain
The CHD1 helical C-terminal domain (CHCT) may bind DNA and nucleosomes.
Function
DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 94
DEE94
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE94 is an autosomal dominant, severe form characterized by onset of multiple seizure types in the first few years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNF2/RAD54 helicase family.
Cellular localization
- Nucleus
- Binds to myogenic gene promoters.
Alternative names
Chromodomain-helicase-DNA-binding protein 2, CHD-2, ATP-dependent helicase CHD2, CHD2