| Entrez Gene ID |
1108 |
| Official Gene Symbol |
CHD4 (GeneCards) |
| Full name |
chromodomain helicase DNA binding protein 4 |
| Location |
12p13.31 |
| Other ids |
Vega : OTTHUMG00000169164
MIM : 603277
HGNC : HGNC:1919
Ensembl : ENSG00000111642
|
| Other names |
CHD-4,
Mi-2b,
SIHIWES,
Mi2-BETA
|
| 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] |