|Application ||WB, IHC, E|
|Other Accession||NP_000649, 326|
|Calculated MW||57727 Da|
|Other Names||Autoimmune regulator, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein, APECED protein, AIRE, APECED|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-AIRE (isoforms 1 and 2) Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions.|
|Cellular Location||Nucleus. Cytoplasm. Note=Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm|
|Tissue Location||Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
AIRE GENE MUTATIONS AND AUTOANTIBODIES TO INTERFERON OMEGA IN PATIENTS WITH CHRONIC HYPOPARATHYROIDISM WITHOUT APECED. Cervato S, et al. Clin Endocrinol (Oxf), 2010 Aug 13. PMID 20718774.
Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? Rua帽o G, et al. Pharmacogenomics, 2010 Jul. PMID 20602615.
The role of AIRE polymorphisms in melanoma. Conteduca G, et al. Clin Immunol, 2010 Jul. PMID 20363194.
Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells. Gu B, et al. Biochem Biophys Res Commun, 2010 Apr 2. PMID 20226168.
Increased apoptosis after autoimmune regulator expression in epithelial cells revealed by a combined quantitative proteomics approach. Colom茅 N, et al. J Proteome Res, 2010 May 7. PMID 20218732.
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