基因名称：AFF2 （AF4/FMR2 family member 2）
别名： FMR2,MRX2,OX19,FMR2P,FRAXE
基因ID：2334
Chromosome(GRCh37) ：X Start: 147582139 End: 148082193 Strand:
信号通路：
靶向药：
化疗药：
简介：这个基因编码一个假定的转录激活因子，它是AF4-FMR2基因家族的成员。该基因与x染色体上叶酸敏感的脆性x-e位点相关。脆性x-e位点的重复多态性导致该基因沉默，导致脆性x-e综合征。脆性x-e综合征是一种非综合征x-连锁认知功能障碍。此外，该基因含有6-25个gcc重复，在疾病状态下可扩展到200个重复。交替剪接导致多个转录变体。[由RefSeq提供，2016年7月]This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]
AFF2突变与药物：
