AIRE, Official Symbol AIREprovided by HGNC Official Full Name autoimmune regulatorprovided by HGNC Primary source HGNC:HGNC:360 See related Ensembl:ENSG00000160224 MIM:607358; AllianceGenome:HGNC:360 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APS1; APSI; PGA1; AIRE1; APECED Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all