Gene Symbol | AFF2 |
Entrez Gene ID | 2334 |
Full Name | AF4/FMR2 family member 2 |
Synonyms | FMR2,FMR2P,FRAXE,MRX2,OX19 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked, FRAXE type, 309548 (3) |