AIRE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AIRE wild-type allele is located in the vicinity of 21q22.3 and is approximately 12 kb in length. This allele, which encodes autoimmune regulator protein, plays a role in both transcriptional activation and the negative regulation of autoimmune responses. Mutation of the gene is associated with autoimmune polyendocrine syndrome 1.

**Synonyms:** - AIRE1 - APECED - APS1 - APSI - Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Gene - Autoimmune Regulator (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) Gene - Autoimmune Regulator wt Allele - PGA1