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AIRE - autoimmune regulator
- Synonym(s) : APS1, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, PGA1
- Previous symbols and names : APECED, autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
- Type : gene with protein product
- Chromosomal location : 21q22.3
- OMIM: 607358
- HGNC: 360
- UniProtKB: O43918
- Genatlas: AIRE
- GenCC: AIRE
- Ensembl: ENSG00000160224
- IUPHAR-DB: -
- Reactome: O43918
- LOVD: AIRE
Diseases list
- Disease-causing germline mutation(s) in Familial isolated hypoparathyroidism due to impaired PTH secretion
ORPHA:189466 
- Disease-causing germline mutation(s) (loss of function) in Autoimmune polyendocrinopathy type 1
ORPHA:3453
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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