Entrez gene ID | | 326 |
Official gene symbol | | AIRE |
Full name | | autoimmune regulator |
Aliases | | ,AIRE1,APECED,APS1,APSI,PGA1, |
Gene summary | | 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] |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 45705763 - 45718110 Map Viewer |
Gene orientation | | plus |
Gene size | | 12348 bp |
Gene sequence |
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OMIM ID | | 607358 |