CHD4
Description
The CHD4 (chromodomain helicase DNA binding protein 4) is a protein-coding gene located on chromosome 12.
CHD4, also known as Chromodomain-helicase-DNA-binding protein 4, is an enzyme encoded by the CHD4 gene in humans. It is the core nucleosome-remodeling component of the NuRD complex, playing a crucial role in epigenetic transcriptional repression. CHD4 interacts with several proteins including HDAC1, Histone deacetylase 2, MTA2, SATB1, and Ataxia telangiectasia and Rad3 related. Mutations in CHD4 are associated with Sifrim-Hitz-Weiss syndrome, a condition characterized by brain anomalies, macrocephaly, deafness, ophthalmic abnormalities, dysmorphic features, congenital heart defects, hypogonadism in males, skeletal and limb anomalies, global developmental delay, and mild to moderate intellectual disability.
CHD4 is an ATP-dependent helicase that binds and distorts nucleosomal DNA. It is a component of the NuRD complex, which remodels chromatin and participates in transcriptional repression. CHD4 localizes to acetylated damaged chromatin, promoting transcriptional repression and double-strand break repair through homologous recombination. This protein is involved in neurogenesis.
CHD4 is also known as CHD-4, Mi-2b, Mi2-BETA, SIHIWES.
