AFF2, Polyclonal Antibody

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

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This AFF2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 886-912 amino acids from the Central region of human AFF2.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-AFF2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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. Alternate splicing results in multiple transcript
variants.

Neuroscience

Western Blot (WB), ELISA (EIA)

WB~~1:1000

AFF2 Antibody (Center) western blot analysis in 293 cell line lysates (35ug/lane).This demonstrates the AFF2 antibody detected the AFF2 protein (arrow).

144771

AF4/FMR2 family, member 2

AF4/FMR2 family member 2

AF4/FMR2 family member 2

FMR2; OX19; FMR2P; Protein FMR-2  [Similar Products]

AFF2_HUMAN

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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009]

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-binding

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: nuclear speck

Biological Process: learning and/or memory; regulation of RNA splicing; RNA splicing; brain development; mRNA processing

Disease: Mental Retardation, X-linked, Associated With Fragile Site Fraxe

Bensaid, M., et al. Nucleic Acids Res. 37(4):1269-1279(2009)
Brylawski, B.P., et al. Exp. Mol. Pathol. 82(2):190-196(2007)
Sharma, D., et al. Genet. Epidemiol. 20(1):129-144(2001)
Hillman, M.A., et al. J. Hum. Genet. 46(5):251-259(2001)
Musumeci, S.A., et al. Clin Neurophysiol 111(9):1632-1636(2000)

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.