AFF2 intronic transcript 1 (AFF2-IT1)

AFF2 intronic transcript 1 (AFF2-IT1) is a poorly characterized transcript, presumably arising from the intronic regions of the AFF2 gene. The canonical AFF2 gene encodes a nuclear protein involved in transcriptional regulation and alternative splicing[3][5]. Alterations in AFF2, such as expansions or intragenic duplications, are associated with X-linked intellectual disability (Fragile XE syndrome) and occasionally resemble Cornelia de Lange syndrome phenotypes[2][5]. There is no evidence that any intronic transcript, nor specifically AFF2-IT1, has recognized roles as a therapeutic target, biomarker, or drug-interacting molecule. The dominant clinical and biological relevance in the literature relates to the protein-coding gene (AFF2/FMR2), not to its intronic transcripts[2][3][5].

Other names

AFF2 (canonical gene/protein)FMR2 (previous HGNC symbol)ALF transcription elongation factor 2AF4/FMR2 family member 2