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.