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Article

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.

Human molecular genetics - 1 Feb 1999

Rinderle C, Christensen H M, Schweiger S, Lehrach H, Yaspo M L

Abstract excerpt

The gene responsible for autoimmune polyendocrino-pathy candidiasis ectodermal dystrophy (APECED) recently has been positionally cloned to 21q22.3. This novel gene, AIRE, encodes for a predicted 57.7 kDa protein featuring two PHD-type zinc fingers shared by other proteins involved in chromatin-mediated tran-scriptional regulation. APECED is an autosomal recessive condition characterized by multiple...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9931335
DOI: 10.1093/hmg/8.2.277

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers.PMID 9931335Read ↗

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.Semantic proximity Read ↗

Cloning of the APECED gene provides new insight into human autoimmunity.Semantic proximity Read ↗

Localization of the APECED protein in distinct nuclear structuresSemantic proximity Read ↗

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targetingSemantic proximity Read ↗

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

The autoimmune regulator: a key toward understanding the molecular pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Semantic proximity Read ↗

APECED-causing mutations in AIRE reveal the functional domains of the protein.Semantic proximity Read ↗

Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription.Semantic proximity Read ↗

AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.Semantic proximity Read ↗

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.Semantic proximity Read ↗

Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED).Semantic proximity Read ↗

APECED mutations in the autoimmune regulator (AIRE) gene.Semantic proximity Read ↗

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