LP97917-6
AIRE gene
Active
Description
The AIRE gene (autoimmune regulator) [HGNC Gene ID:360] is located on chromosome 21q22.3. 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] [NCBI Gene ID:326] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- AIRE gene
- Part Display Name
- AIRE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-11-18
- Construct for LOINC Short Name
- AIRE gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | AIRE 基因 Synonyms: 自身免疫调节因子基因; |
| et-EE | Estonian (Estonia) | AIRE geen |
| es-ES | Spanish (Spain) | Gen AIRE |
| it-IT | Italian (Italy) | AIRE, gene Synonyms: Gene AIRE |
| tr-TR | Turkish (Turkey) | AIRE geni |
| ru-RU | Russian (Russian Federation) | AIRE ген |
| nl-NL | Dutch (Netherlands) | AIRE-gen Synonyms: AIRE gen |
| fr-FR | French (France) | AIRE gène |
| pl-PL | Polish (Poland) | AIRE gen Synonyms: Gen AIRE |
| el-GR | Greek (Greece) | Γονίδιο AIRE Synonyms: Γονίδιο AIRE |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://