菜单 基因医生

该基因编码的蛋白质是转录调节器叉头/翼螺旋家族的成员。这种基因的缺陷是导致免疫缺陷的原因:多内分泌疾病、肠病、X连锁综合症(IPEX),也称为X连锁自身免疫性免疫缺陷综合症。另外,还发现了编码不同亚型的剪接转录变体。
The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.

基因名:FOXP3
别名:AIID,DIETER,IPEX,JM2,PIDX,XPID
基因ID:50943
Chromosome:
(GRCh37)
HG1436_HG1432_PATCH Start: 49109835 End: 49124225 Strand: -1
信号通路:  
靶向药:
化疗药: 表柔比星 
FOXP3 基因突变与药物