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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains.

Finnish-German APECED Consortium

Nature Genetics, 01 Dec 1997, 17(4):399-403
https://doi.org/10.1038/ng1297-399 PMID: 9398840

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We have isolated a novel gene, AIRE, encoding for a putative nuclear protein featuring two PHD-type zinc-finger motifs, suggesting its involvement in transcriptional regulation. Five mutations in AIRE are reported in individuals with this disorder. This is the first report of a single-gene defect causing a systemic human autoimmune disease, providing a tool for exploring the molecular basis of autoimmunity.

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References

Articles referenced by this article (34)

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Wikipedia

https://en.wikipedia.org/wiki/Autoimmune_regulator

Data

Data that cites the article

This data has been provided by curated databases and other sources that have cited the article.

Diseases in OMIM (2)

AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE(OMIM - 240300)
AUTOIMMUNE REGULATOR; AIRE(OMIM - 607358)

Gene Ontology Annotation Project

https://www.ebi.ac.uk/QuickGO/annotations?reference=9398840

Proteins in UniProt

Autoimmune regulator(UniProt - O43918)

GlyGen is an international glycobioinformatics knowledgebase funded by The National Institutes of Health to facilitate glycoscience research by integrating diverse kinds of information, including glycomics, genomics, proteomics (and glycoproteomics), cell biology, developmental biology and biochemistry.

https://www.glygen.org/publication/MED/9398840

Nucleotide sequences in ENA (5)

Homo sapiens AIRE gene(ENA - AJ009610)
Mus musculus cosmid MPMGc121L12287 containing the syntenic region of thehuman AIRE gene, complete sequence.(ENA - AF073797)
Homo Sapiens mRNA for AIRE protein(ENA - Z97990)
Homo sapiens (human) hypothetical protein(ENA - CAA08759)
Homo sapiens (human) AIRE protein(ENA - CAB10790)

Protein families in InterPro (2)

AIRE_PHD2(InterPro - IPR042580)
AIRE(InterPro - IPR008087)

The Rat Genome Database (RGD) was established in 1999 and rapidly became the premier site for genetic, genomic, phenotype, and disease-related data generated from rat research. In addition, RGD has expanded to include a large body of structured and standardized data for eight species (rat, mouse, human, chinchilla, bonobo, 13-lined ground squirrel, dog and pig). Much of this data is the result of manual curation work by RGD curators. In other instances, it has been imported into RGD from other databases through custom ELT (Extract, Load and Transform) pipelines giving RGD users integrated access to a wide variety of data to support their research efforts. RGD also offers a growing suite of innovative tools for querying, analyzing and visualizing this data making it a valuable resource for researchers worldwide.

https://rgd.mcw.edu/rgdweb/report/reference/main.html?id=11063326

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