菜单 基因医生

该基因编码一种蛋白质,在dna双链断裂修复途径选择、促进非同源末端连接(nhej)途径和限制同源重组中发挥作用。该蛋白在dna损伤反应中发挥多种作用,包括促进dna损伤后的检查点信号传导,作为dna损伤反应蛋白向受损染色质募集的支架,以及通过限制双链断裂后的末端切除促进nhej途径。这些作用在v(d)j重组、类开关重组和未保护端粒中也很重要。选择性剪接导致编码不同亚型的多个转录变体。[由RefSeq提供,2017年8月]
This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]

基因名:TP53BP1
别名:p202,53BP1,TDRD30,p53BP1
基因ID:7158
Chromosome:
(GRCh37)
15 Start: 43695262 End: 43802707 Strand: 
信号通路:  
TP53BP1 基因突变与药物