ARID1B
小结
ARID1B基因编码的蛋白是ATP依赖性染色质重塑复合物SNF/SWI的成员，ARID1B编码蛋白与ARID1A类似,这两种蛋白作为SWI/SNF复合物的ARID亚基起替代的，互斥的作用。与ARID1B相关的信号通路是ESR1/SP通路中配体依赖性的转录激活，并且活化的PKN1刺激AR（雄激素受体）调节基因KLK2和KLK3的转录。ARID1B可以取代BAF络合物中的ARID1A，尽管ARID1A更普遍存在。与ARID1B相关的疾病包括Coffin-Siris综合征1和高血脂症。在乳腺癌、妇科癌肉瘤、胰腺癌和神经母细胞瘤中已经鉴定出的ARID1B失活突变。
ARID1B (AT-rich interactive domain-containing protein 1B), also known as BAF250B, is a member of the SWI/SNF chromatin-remodeling complex, and plays a role in altering chromatin structure for various cellular functions, including transcription, DNA synthesis and DNA repair. ARID1B binds to AT-rich regions of DNA and helps recruit other members of the SWI/SWF complex, such as SMARCA and BAF complexes. Together, these complexes are involved in ATP-dependent chromatin remodeling via nucleosome displacement and thus allow for gene expression activation. ARID1B can substitute for ARID1A in BAF complexes despite ARID1A being more commonly present. Like ARID1A, germline mutations in ARID1B result in Coffin-Siris syndrome, which is characterized by developmental delay and coarse facial features. Inactivating ARID1B mutations have been identified in breast cancer, gynecologic carcinosarcoma, pancreatic cancer and neuroblastoma.