This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012],
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
Western blot analysis of lysates from HeLa cells, treated with Hu 2nM 24h, using AIRE Antibody. The lane on the right is blocked with the synthesized peptide.
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