菜单 基因医生

该基因编码的蛋白质属于类死亡螺旋酶超家族,与酿酒酵母rad54相似,后者参与dna的同源重组和修复。该蛋白在dna双链断裂的同源重组修复中起着重要作用。这种蛋白质与双链dna的结合引起dna拓扑结构的改变,这被认为有助于同源dna的切割,并刺激dna重组。选择性剪接导致编码相同蛋白质的多个转录变体。[由RefSeq提供,2008年12月]
The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

基因名:RAD54L
别名:HR54,hHR54,RAD54A,hRAD54
基因ID:8438
Chromosome:
(GRCh37)
1 Start: 46713367 End: 46744145 Strand: 
信号通路:  
RAD54L 基因突变与药物