{"symbol":"AFF2","synonyms":["FMR2P","FRAXE","OX19","MRX2"],"name":"AF4/FMR2 family, member 2","description":"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 \u003e200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]","ncbiEntrezGeneId":2334,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2334","proteins":[{"symbol":"AFF2_HUMAN","href":"/api/1.0/protein/AFF2_HUMAN"}],"hgncRootFamilies":[]}