基因名称:FAN1 (FANCD2 and FANCI associated nuclease 1)
别名: KMIN,hFAN1,MTMR15,KIAA1018
基因ID:22909
Chromosome(GRCh37) :15 Start: 31191703 End: 31235311 Strand:
信号通路:
靶向药:
化疗药:
简介:该基因在DNA的跨链修复中起作用,编码一个具有5’皮瓣核酸内切酶和5′-3’外切酶活性的蛋白质此基因突变可引起核型巨核间质性肾炎。另外,还描述了编码不同亚型的剪接转录变体。[由RefSeq提供,2016年2月]This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5′ flap endonuclease and 5′-3′ exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
FAN1突变与药物: