AFF2

(redirected from FRAXE)
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AFF2

A gene on chromosome Xq28 that encodes a putative transcriptional activator of the AF4\FMR2 gene family, which may be involved in alternative splicing regulation.

Molecular pathology
AFF2 is associated with the folate-sensitive fragile X E locus. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation.
References in periodicals archive ?
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects.
Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study.
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.
Identification of the gene FMR2, associated with FRAXE mental retardation.
Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.