基因名称：RBBP8 （RB binding protein 8, endonuclease）
别名： RIM,COM1,CTIP,JWDS,SAE2,SCKL2
基因ID：5932
Chromosome(GRCh37) ：18 Start: 20513295 End: 20606451 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码的蛋白质是一种广泛表达的核蛋白。它存在于直接与调节细胞增殖的视网膜母细胞瘤蛋白结合的几种蛋白质中。该蛋白与转录辅阻遏因子ctbp复合。它也与brca1相关，被认为调节brca1在转录调控、dna修复和/或细胞周期检查点控制中的功能。提示该基因本身可能是一种与brca1作用途径相同的抑癌基因。已经发现了三个编码两种不同亚型的转录变体。更多的转录变体存在，但它们的全长性质尚未确定。[由RefSeq提供，2008年7月]The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
RBBP8突变与药物：
