TP53BP1基因突变因子与药物介绍
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]
