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AFF2

Official Full Name
AF4/FMR2 family, member 2
Background
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 mental retardation. Alternate splicing results in multiple transcript variants.
Synonyms
AFF2; AF4/FMR2 family, member 2; FMR2, fragile X mental retardation 2; AF4/FMR2 family member 2; FRAXE; AFF2_HUMAN; FMR2; FMR2P; Fragile X E mental retardation syndrome protein; fragile X mental retardation 2; Fragile X mental retardation 2 protein; fragile X mental retardation gene associated with FRAXE; mild or borderline mental retardation; MRX2; OTTHUMP00000024204; OX19; Protein FMR-2; Protein Ox19

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