AFF2 Antibody – Rabbit Polyclonal

This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 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 cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]

Function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Ref.12

Subcellular location: Nucleus speckle. Note: When splicing is inhibited, accumulates in enlarged speckles. Ref.12

Tissue specificity: Brain (most abundant in hippocampus and amygdala), placenta and lung.

Involvement in disease: Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE) [MIM:309548]: A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.Note: The disease is caused by mutations affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCGN expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island. Ref.12 Ref.14

Sequence similarities: Belongs to the AF4 family.