菜单 基因医生

该基因编码肌动蛋白相关蛋白(arps)的一个家族成员,与传统肌动蛋白具有显著的氨基酸序列同源性。肌动蛋白和ARPs都有肌动蛋白折叠,这是ATP结合裂缝,是一个共同的特征ARPs参与多种细胞过程,包括囊泡转运、纺锤体定向、核迁移和染色质重塑该基因编码哺乳动物BAF(BRG1/brm相关因子)复合物的53kda亚单位蛋白,其功能与酿酒酵母和果蝇的SWI/SNF复合物相关;后者被认为通过对抗染色质介导的转录抑制促进特定基因的转录激活与β肌动蛋白一起,它需要BRG1的最大ATPase活性,以及BAF复合物与染色质/基质的结合。已经描述了编码两种不同蛋白质亚型的三种转录变体。[由RefSeq提供,2008年7月]
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]

基因名:ACTL6A
别名:Arp4,ACTL6,BAF53A,INO80K,ARPN-BETA
基因ID:86
Chromosome:
(GRCh37)
3 Start: 179280708 End: 179306193 Strand: 
信号通路:  
ACTL6A 基因突变与药物