AFF2

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 ?
Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.