靶标:
FXN
产品别名:
CyaY; FA; FARR; FRDA; X25; FXN; frataxin; frataxin; frataxin, mitochondrial; Friedreich ataxia protein; 弗里德赖希共济失调蛋白(FXN); 线粒体型共济失调蛋白;
背景信息:
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.