Protein Name autoimmune regulator
Organism Homo sapiens
Gene ID 326
Gene Symbol


UniProt O43918 (AIRE_HUMAN)
Relationships Total Number of functionally related compound(s) : 123
Total Number of Articles : 122

autoimmune regulator

Gene Summary

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]

  • autoimmune regulator
  • autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
  • AIRE1
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