CHD8基因编码功能及结构描述
该基因编码一个色域螺旋酶DNA结合蛋白家族成员，其特征是一个SNF2样结构域和两个染色质组织修饰结构域编码的蛋白质还包含婆罗门和基斯米特结构域，这些结构域是该蛋白质所属的色域螺旋酶DNA结合蛋白亚家族的共同结构域。该基因在转录调控、表观遗传重塑、促进细胞增殖和RNA合成等过程中发挥着重要作用该基因的等位变异与自闭症谱系障碍有关选择性剪接导致多个转录变体[由RefSeq提供，2016年12月]
This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
