GENE NAME | AIRE |
CHROMOSOME | 21 |
ENSEMBL ID | ENSG00000160224 |
ENTREZ ID | 326 |
UNIPROT ACCESSION NUMBER | O43918 |
GO MOLECULAR FUNCTION | metal ion binding; protein binding; DNA binding; identical protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04120; hsa05340 |
1 combination linked to AIRE | OLI025 |
1 variant linked to AIRE | AIRE:c.599C>T, p.Pro200Leu |
1 disease linked to AIRE | Primary hemophagocytic lymphohistiocytosis |