AIRE polyclonal antibody (Cat # PAB7040) (0.05 ug/mL) staining of HEK 293T (Bosc 23) lysates. Untransfected (Lane A) and transfected with human AIRE (lane B). Data kindly provided by Prof. Part Peterson, University of Tartu, Estonia.
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). [provided by RefSeq