AIRE is a transcriptional regulator that is thought to be important in controlling tissue-specific expression of genes in the thymus. The precise function of the protein is not well defined. It contains zinc finger motifs. The AIRE isoform 1 (AIRE) is a splice variant and is localized to both the nucleus and cytoplasm.
Defects in this gene cause the autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
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