ACTL6B

该基因编码的蛋白是肌动蛋白相关蛋白家族的一员,与传统肌动蛋白具有重要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中baf(brg1/brm相关因子)复合物的一个亚单位,在功能上与酿酒酵母和果蝇中的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。该亚单位可能通过其染色质的结构调节参与基因的调节,特别是在大脑中。选择性剪接导致多个转录变体[由RefSeq提供,2015年12月]
The protein encoded by this gene is a member of a family 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 subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

别名

ACTL6,BAF53B,EIEE76,IDDSSAD,arpNalpha

基因id

Chromosome:7 Start: 100240720 End: 100254084 Strand: 

药物

突变与药物

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