Rabbit anti-Human AFF2 Polyclonal Antibody | anti-AFF2 antibody

AFF2, ID (AFF2, FMR2, OX19, AF4/FMR2 family member 2, Fragile X E mental retardation syndrome protein, Fragile X mental retardation 2 protein, Protein Ox19) (FITC)

Cat. Num. AAA6272083

• Gene Names: AFF2; FMR2; MRX2; OX19; FMR2P; FRAXE
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: AFF2; Polyclonal Antibody; ID (AFF2; FMR2; OX19; AF4/FMR2 family member 2; Fragile X E mental retardation syndrome protein; Fragile X mental retardation 2 protein; Protein Ox19) (FITC); Protein Ox19; anti-AFF2 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Fluorescein Isothiocyanate (FITC).

• Applicable Applications for anti-AFF2 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: AFF2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 885-912 amino acids from the Central region of human AFF2.
• Conjugate: FITC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: FITC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

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

Related Product Information for anti-AFF2 antibody

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.

Product Categories/Family for anti-AFF2 antibody

Antibodies; RNA Binding Proteins

References

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).

NCBI and Uniprot Product Information

• NCBI GI #: 282165691
• NCBI GeneID: 2334
• NCBI Accession #: NP_001162593.1
• NCBI GenBank Nucleotide #: NM_001169122.1
• UniProt Accession #: P51816; O43786; O60215; P78407; Q13521; Q14323; Q7Z2F7; A2RTY4; B4DXD5; B7WNQ1; B7ZLD6; B7ZLD9
• Molecular Weight: 144,771 Da
• NCBI Official Full Name: AF4/FMR2 family member 2 isoform 2
• NCBI Official Synonym Full Names: AF4/FMR2 family, member 2
• NCBI Official Symbol: AFF2
• NCBI Official Synonym Symbols: FMR2; MRX2; OX19; FMR2P; FRAXE
• NCBI Protein Information: AF4/FMR2 family member 2; protein FMR-2; fragile X mental retardation 2 protein; fragile X E mental retardation syndrome protein
• UniProt Protein Name: AF4/FMR2 family member 2
• Protein Family: AF4/FMR2 family
• UniProt Gene Name: AFF2
• UniProt Synonym Gene Names: FMR2; OX19; FMR2P
• UniProt Entry Name: AFF2_HUMAN

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.