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 ?
The present study confirms the rarity of FRAXE syndrome in SA, consistent with reports from other studies.
However, FRAXE syndrome was not shown to contribute significantly to ID in the SA population and has therefore not been incorporated into the routine diagnostic testing.
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.
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.
A candidate gene for mild mental handicap at the FRAXE fragile site.
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
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.