Details for Gene AIRE

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

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