菜单 基因医生

该基因的产物属于SNF2 / RAD54解旋酶家族。 它代表核小体重塑和脱乙酰基酶复合物的主要成分,并且在表观遗传转录抑制中起重要作用。 皮肌炎患者会产生针对这种蛋白质的抗体。 该基因的体细胞突变与浆膜性子宫内膜肿瘤有关。 选择性剪接导致编码不同同工型的多个转录变体。 [由RefSeq提供,2014年7月]
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]

基因名:CHD4
别名:CHD-4,Mi-2b,SIHIWES,Mi2-BETA
基因ID:1108
Chromosome:
(GRCh37)
12 Start: 6679248 End: 6716551 Strand: 
信号通路: 组蛋白修饰  基因组不稳定 
CHD4 基因突变与药物