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).
AIRE; AIRE protein; AIRE1; APECED; APECED protein homolog; APS1; APSI; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog; Autoimmune regulator; autoimmune regulator (APECED protein); autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); autoimmune regulator (automimmune polyendocrinopathy candidiasis ectodermal dystrophy); autoimmune regulator AIRE1a; OTTHUMP00000109529; PGA1
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