Rabbit AFF2 Polyclonal Antibody | anti-AFF2 antibody
AFF2 antibody - middle region
Target Description: AFF2 belongs to the AF4 family. Defects in AFF2 are the cause of FRAXE. The exact function of AFF2 remains unknown.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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.
Research Articles on AFF2
Similar Products
Product Notes
The AFF2 aff2 (Catalog #AAA3203896) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The AFF2 antibody - middle region reacts with Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's AFF2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the AFF2 aff2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: Synthetic peptide located within the following region: AMGNCNNGPV TIPQRIHHMA ASHVNITSNV LRGYEHWDMA DKLTRENKEF. It is sometimes possible for the material contained within the vial of "AFF2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.