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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AIRE (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID326
Official gene symbolAIRE
Full nameautoimmune regulator
Aliases,AIRE1,APECED,APS1,APSI,PGA1,
Gene summaryThis 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]
LocationChromosome: 21   Locus: 21q22.3
Gene position45705763 - 45718110  Map Viewer
Gene orientationplus
Gene size12348 bp
Gene sequence
OMIM ID607358