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 ?
In addition, risk alterations were found in genes associated with fragile X or related syndromes (CAPRIN1 and AFF2), social-cognitive deficits (VIP), epilepsy (SCN2A and KCNQ2) as well as NRXN1 and CHD7, which causes ASD-associated CHARGE syndrome.
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.
The AFF gene family consists of AFF1 [also known as ALL1-fused gene from chromosome 4 (AF4)], AFF2 [also known as fragile X mental retardation 2 (FMR2)], AFF3 [also known as lymphoid nuclear protein related to AF4 (LAF4)], and AFF4 [also known as ALL1-fused gene from 5q31 (AF5q31) or major CDK9 elongation factor associated-protein (MCEF)] (21).
Items Aff3, Aff2, and Aff1 were related to the fourth dimension, Affection which explained a variance of 13.372 percent.