The function of the protein encoded by the AIRE gene is not well defined. However it contains zinc finger motifs suggestive of a transcription factor. The protein (isoform 1) 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).