AIRE

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, Jul 2008]

Description

autoimmune regulator

Protein family

Transcription factors

Chromosome

21:q22.3 (45705721 - 45718531)

Ensembl ID

ENSG00000160224  (ver. 69.37)

Orthologs

Mouse Aire: ENSMUSG00000000731

Human splice variants
Mouse splice variants