The AFF2 Polyclonal Antibody (PAC056310) is an essential tool for researchers studying AFF2, also known as AF4/FMR2 family member 2. This antibody, raised in rabbits, exhibits high reactivity with human samples and is validated for use in Western blot applications. By binding specifically to the AFF2 protein, this antibody enables accurate detection and analysis in various cell types, making it an ideal choice for studies in genetics and neurobiology.AFF2 plays a significant role in gene regulation and transcriptional activation, making it a crucial target for research into neurodevelopmental disorders, such as Fragile X syndrome.
Understanding the function of AFF2 is essential for developing targeted therapies for individuals affected by these conditions. The AFF2 Polyclonal Antibody provides researchers with a valuable tool to advance our understanding of AFF2's role in gene expression and neurological development.
Antibody Name:
AFF2 Antibody (PACO56310)
Antibody SKU:
PACO56310
Size:
50ug
Host Species:
Rabbit
Tested Applications:
ELISA, WB
Recommended Dilutions:
ELISA:1:2000-1:10000, WB:1:500-1:5000
Species Reactivity:
Human
Immunogen:
Recombinant Human AF4/FMR2 family member 2 protein (575-705AA)
Western Blot. Positive WB detected in: A549 whole cell lysate. All lanes: AFF2 antibody at 5µg/ml. Secondary. Goat polyclonal to rabbit IgG at 1/50000 dilution. Predicted band size: 145, 141, 48, 144, 106 kDa. Observed band size: 145 kDa.
Background:
RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure.
Synonyms:
AF4/FMR2 family member 2 (Fragile X E mental retardation syndrome protein) (Fragile X mental retardation 2 protein) (FMR2P) (Protein FMR-2) (Protein Ox19), AFF2, FMR2 OX19
UniProt Protein Function:
AFF2: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Defects in AFF2 are the cause of mental retardation X- linked associated with fragile site FRAXE (MRFRAXE). 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. 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 CCG(N) 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. Belongs to the AF4 family. 7 isoforms of the human protein are produced by alternative splicing.Protein type: DNA-bindingChromosomal Location of Human Ortholog: Xq28Cellular Component: nuclear speckBiological Process: brain development; regulation of RNA splicingDisease: Mental Retardation, X-linked, Associated With Fragile Site Fraxe
UniProt Protein Details:
NCBI Summary:
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 mental retardation. 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]