Product Overview
Blocking/Immunizing peptide for anti-AIRE (isoform 1) antibody
Tag/Conjugate
Unconjugated
Application Notes
For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.
Format
Lyophilized powder
Storage
Shipped at ambient temperature, store at -20°C.
Antigen Description
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).
Function
DNA binding; chromatin binding; histone binding; identical protein binding; metal ion binding; protein binding; transcription regulatory region DNA binding; translation regulator activity; zinc ion binding;
Synonyms
AIRE; autoimmune regulator; APECED, autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); APS1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; APSI; AIRE1; APECED;
Citations
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De Luca, F; Valenzise, M; et al. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. EUROPEAN JOURNAL OF PEDIATRICS 167:1283-1288(2008).
Colobran, R; Armengol, MD; et al. Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance. HUMAN MOLECULAR GENETICS 20:3415-3423(2011).