This gene encodes a transcriptional regulator that formsnnuclear bodies and interacts with the transcriptional coactivatornCBP. At least three splice variant mRNAs products have beenndescribed including one which results in a premature stop codon andna transcript predicted to be a candidate for nuclear-mediated decayn(NMD). Defects in this gene cause the rare autosomal-recessivensystemic autoimmune disease termed autoimmunenpolyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
应用类型
WB
免疫原
This AIRE antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 64-92 amino acids from the Central region of human AIRE.
