| Entrez Gene ID |
326 |
| Official Gene Symbol |
AIRE (GeneCards) |
| Full name |
autoimmune regulator |
| Location |
21q22.3 |
| Other ids |
Vega : OTTHUMG00000086921
MIM : 607358
HGNC : HGNC:360
Ensembl : ENSG00000160224
|
| Other names |
APS1,
APSI,
PGA1,
AIRE1,
APECED
|
| 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] |