Aliases for CHD4 Gene
External Ids for CHD4 Gene
Previous GeneCards Identifiers for CHD4 Gene
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. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for CHD4 Gene
CHD4 (Chromodomain Helicase DNA Binding Protein 4) is a Protein Coding gene. Diseases associated with CHD4 include Sifrim-Hitz-Weiss Syndrome and Helsmoortel-Van Der Aa Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include hydrolase activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ENSG00000285238.
UniProtKB/Swiss-Prot for CHD4 Gene
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.