p14ARF 功能丧失导致的细胞凋亡内在通路缺陷
中文名称
通路描述
CDKN2A 基因中源自癌症的错义突变影响 p14ARF（也称为 CDKN2A 转录异构体 4，CDKN2A-4，p14 或 ARF）的 C 端富含精氨酸区域，损害 p14ARF 与线粒体基质蛋白 C1QBP 的结合，并干扰 p53 介导的凋亡。许多位于 CDKN2A 位点的突变在 p16INK4A（CDKN2A-1）中是沉默的（Itahana and Zhang 2008）。
英文描述
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Cancer-derived missense mutations in the CDKN2A gene that affect the C-terminal arginine-rich region of p14ARF (also known as CDKN2A transcription isoform 4, CDKN2A-4, p14 or ARF) impair p14ARF binding to the mitochondrial matrix protein C1QBP and interfere with p53-mediated apoptosis. Many mutations in the CDKN2A locus that affect C-terminal arginines of p14ARF are silent in p16INK4A (CDKN2A-1) (Itahana and Zhang 2008).
所含基因
1 个基因