Entrez gene ID | | 2334 |
Official gene symbol | | AFF2 |
Full name | | AF4/FMR2 family, member 2 |
Aliases | | ,FMR2,FRAXE,MRX2,OX19, |
Gene summary | | 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 mental retardation. Alternate splicing results in multiple transcript variants. |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 147582139 - 148082193 Map Viewer |
Gene orientation | | plus |
Gene size | | 500055 bp |
Gene sequence |
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OMIM ID | | 300806 |
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