Figure 1. Chromosome localization of AIRE gene, AIRE gene mutations and AIRE protein. AIRE gene is located on chromosome 21 q22.3, close to gene encoding phosphor-fructokinase of liver type (PFKL). To date some 45 different mutations have been detected with R257X and 1094del13 to be the dominant mutations detectable in patients with different ethnic backgrounds. Shown in the figure are the mutations in various exons. AIRE protein contains two PHD zinc-finger motifs (PHD), three LXXLL motifs (L) and a proline-rich region (PRR), suggestive of its putative role as nuclear transcriptional regulator.