|Other Names||Autoimmune regulator, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein, APECED protein, AIRE, APECED|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions.|
|Cellular Location||Nucleus. Cytoplasm. Note=Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm|
|Tissue Location||Widely expressed. Expressed at higher level in thymus (medullary epithelial cells and monocyte-dendritic cells), pancreas, adrenal cortex and testis. Expressed at lower level in the spleen, fetal liver and lymph nodes. Isoform 2 and isoform 3 seem to be less frequently expressed than isoform 1, if at all|
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This gene encodes a transcriptional regulator that formsnuclear bodies and interacts with the transcriptional coactivatorCBP. At least three splice variant mRNAs products have beendescribed including one which results in a premature stop codon anda transcript predicted to be a candidate for nuclear-mediated decay(NMD). Defects in this gene cause the rare autosomal-recessivesystemic autoimmune disease termed autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Cervato, S., et al. Clin. Endocrinol. (Oxf) 73(5):630-636(2010)Ruano, G., et al. Pharmacogenomics 11(7):959-971(2010)Conteduca, G., et al. Clin. Immunol. 136(1):96-104(2010)Colome, N., et al. J. Proteome Res. 9(5):2600-2609(2010)Gu, B., et al. Biochem. Biophys. Res. Commun. 394(2):418-423(2010)
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