Gene Symbol | CHD4 |
Entrez Gene ID | 1108 |
Full Name | chromodomain helicase DNA binding protein 4 |
Synonyms | CHD-4,Mi-2b,Mi2-BETA,SIHIWES |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Sifrim-Hitz-Weiss syndrome, 617159 (3) |