TP53 —— 肿瘤蛋白p53

TP53

肿瘤蛋白p53

tumor protein p53

该基因编码一种肿瘤抑制蛋白，包含转录激活、DNA结合和寡聚化结构域。该蛋白对多种细胞应激反应做出反应，调节靶基因的表达，从而诱导细胞周期停滞、凋亡、衰老、DNA修复或代谢变化。该基因的突变与多种人类癌症有关，包括遗传性癌症如Li-Fraumeni综合征。该基因的可变剪接和使用不同启动子导致多种转录本变异和亚型的形成。还有其他亚型被证明是从相同的转录本变异中使用不同的起始密码子而产生的 (PMID: 12032546, 20937277)。

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]