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AFF2 encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. De plus, nous expédions AF4/FMR2 Family, Member 2 Anticorps (52) et beaucoup plus de produits pour cette protéine.
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Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular.
2.5% of males Autism spectrum disorder patients had missense mutations in AFF2 at highly conserved evolutionary sites.
A report of novel deletions involving AFF2 provide evidence for a new mutational spectrum, microdeletions, that are responsible for Fragile X E in a small subset of patients.
overexpression of AFF2/3/4 interferes with the organization and/or biogenesis of nuclear speckles.
CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci observed in this study demonstrated a racial and ethnic variation among the populations in India.
FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).
Overlapping expression of Af9 with Af4/Aff1 and Fmr2/Aff2, two genes that are also related to neurodevelopmental diseases, as well as with the highly homologous Enl.
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.
AF4/FMR2 family member 2
, fragile X E mental retardation syndrome protein
, fragile X mental retardation 2 protein
, protein FMR-2
, Ox19 homolog
, fragile X mental retardation 2 homolog
, fragile X mental retardation protein 2 homolog
, fragile X mental retardation 2