AIRE
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000383.2,NM_000658.1 Gene Symbol AIRE
Protein Name Autoimmune regulator
Alternate Names AIRE1, APECED, APS1, APSI, PGA1
Gene Locus 21q22.3

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
72 06301 607358 326 1XWH
 360 ENSG00000160224 O43918 AIRE

Disease name Characteristic / Associated features Category inheritance type
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy Autoimmune Disease; Keratopathy; Keratoconjunctivitis; Hypoplastic dental enamel; autoimmune hepatitis; Cholelithiasis; Asplenia; Malabsorption; Diarrhea; Chronic atrophic gastritis; Hypogonadism; Vitiligo; Ectodermal dystrophy; Alopecia; Adrenal insufficiency; Hypoparathyroidism; Hypogonadism; Diabetes mellitus; Hypoaldosteronism, transient, isolated; Pituitary defects; Pernicious anemia; Chronic mucocutaneous candidiasis; Multiple autoantibodies Diseases of Immune Dysregulation Autosomal recessive