AIRE Monoclonal Antibody (TM-724), eBioscience™, Invitrogen™

Description

• This TM-724 MAb reacts with human Autoimmune Regulator (AIRE)
• This 58 kDa transcription factor is highly expressed within the perinuclear region of mature medullary thymic epithelial cells (mTECs)
• AIRE mRNA in the periphery has been observed in the lymph node, fetal liver, and intestines
• Furthermore expression has been observed in dendritic cells, epithelial cells and PBMCs
• Studies demonstrate that AIRE is involved in thymocyte development, in particular the regulation of tissue-specific antigen expression during negative selection
• Other biological functions for AIRE include chemokine expression and antigen presentation
• As a result of alternative splicing, three isoforms have been reported
• The conditions autoimmune-polyendocrinopathy-candiasis-ectodermal-dystrophy (APECED) and autoimmune polyglandular syndrome type 1 (APS-1) arise from mutations in the human AIRE gene
• The TM-724 antibody is predicted to recognize all three isoforms of human AIRE (AIRE-1, AIRE-2, AIRE-3)
• AIRE is a transcriptional regulator protein that binds to DNA as a dimer and tetramer, but not as a monomer, and may be involved in the regulation of gene expression
• A nuclear protein, AIRE is a 545 amino acid protein with an HSR domain, two PHD type zinc fingers, and a SAND domain, and may be present in soluble high-molecular-weight complexes
• It may form homodimer, homotetramer and also nuclear bodies and interacts with the transcriptional coactivator CBP and CREBBP
• Three isoforms of AIRE are reported and one of them is predicted to be a candidate for nuclear-mediated decay (NMD)
• AIRE is involved in immune regulation and is known to mediate E3 ubiquitin ligase activity
• Defects in AIRE are responsible for the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).