FANCC
小结
FANCC是抑癌基因,编码蛋白为参与DNA损伤修复的FANC的一个组分,其在细胞凋亡,氧化还原调节,细胞因子信号传导和其他细胞过程中起作用。已显示FANCC与转录共抑制子C-末端结合蛋白1直接相互作用。在白血病,口腔癌,乳腺癌和胰腺癌中观察到FANCC失活突变。FANCC的种系突变与范可尼贫血有关,易患乳腺癌,卵巢癌和胰腺癌。
FANCC gene encodes the Fanconi anemia group C protein which functions in apoptosis, redox regulation, cytokine signaling and other cellular processes. Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with a progressive decline in hematopoietic stem cells, developmental defects, and cancer predisposition. The FA pathway is activated in response to cellular stress that causes interruptions in the replication or transcription processes; it is particularly responsive to a certain type of DNA damage called inter strand cross-links. FANCC has been shown to directly interact with the transcriptional co-repressor, C-terminal-binding protein 1. Inactivating mutations have been observed in leukemia, oral, breast and pancreatic cancers and heterozygous mutations have been associated with hereditary breast and ovarian cancers.