Description
Product Characteristics: AIRE, autoimmune regulator (automimmune polyendocrinopathy candidiasis ectodermal dystrophy), APS1, APSI, PGA1, APECED, AIRE protein, autoimmune regulator (APECED protein), autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), autoimmune regulator, AIRE1, OTTHUMP00000109529, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
Target Information: 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]