AIRE autoimmune regulator
Gene ID: 326, updated on 28-Oct-2024Gene type: protein coding
Also known as: APS1; APSI; PGA1; AIRE1; APECED
- See all available tests in GTR for this gene
- Go to complete Gene record for AIRE
- Go to Variation Viewer for AIRE variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Polyglandular autoimmune syndrome, type 1 | See labs |
| The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.3
- Sequence:
- Chromosome: 21; NC_000021.9 (44285876..44298648)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AIRE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AIRE database
- AIREbase: Mutation registry for APECED
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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