菜单 基因医生

该基因编码的蛋白质与酿酒酵母rad52相似,rad52是dna双链断裂修复和同源重组的重要蛋白。该基因产物与单链dna末端结合,介导dna与dna的相互作用,这是dna链退火所必需的。同时发现其与dna重组蛋白rad51相互作用,提示其在与rad51相关的dna重组和修复中的作用。这个基因的假基因存在于2号染色体上。选择性剪接导致多个转录变体。已经描述了该基因的其他选择性剪接转录变体,但其全长性质尚不清楚。[由RefSeq提供,2014年7月]
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

基因名:RAD52
别名:
基因ID:5893
Chromosome:
(GRCh37)
12 Start: 1021255 End: 1099774 Strand: 
信号通路:  
RAD52 基因突变与药物