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.
GeneCards OncoKB My Cancer Genome