AIRE wt Allele

Preferred Label : AIRE wt Allele;

NCIt synonyms : APECED; APS1; Autoimmune Regulator wt Allele; AIRE1; Autoimmune Regulator (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) Gene; Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Gene; APSI; PGA1;

NCIt definition : Human AIRE wild-type allele is located in the vicinity of 21q22.3 and is approximately 12 kb in length. This allele, which encodes autoimmune regulator protein, plays a role in both transcriptional activation and the negative regulation of autoimmune responses. Mutation of the gene is associated with autoimmune polyendocrine syndrome 1.;

GenBank Accession Number : AB006684;

Details

Origin ID

C114320;

UMLS CUI

C3714974;

Automatic exact mappings (from CISMeF team)
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune polyendocrinopathy type 1 [ORDO Disease]
- Nudix hydrolase 11 [OMIM gene]
- autoimmune regulator [ORDO Gene]
- polyendocrinopathies, autoimmune [MeSH Descriptor]
- prostaglandin A1 [MeSH Supplementary Concept]
OMIM relation
- Autoimmune regulator [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 21q22.3 [NCIt concept]
gene_is_element_in_pathway
- Primary Immunodeficiency Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Immunologic Tolerance [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients