AIRE
Reaktivität: Human, Maus
IF
Wirt: Kaninchen
Polyclonal
unconjugated
Applikationshinweise
Peptide ELISA: Limit Dilution: 1/32000. Western blot: 0.01-0.03 μg/mL. Appr.60 kDa in transfected HEK293 lysates (calculated MWof 57.0 kDa according to NP_000374.1). Immunohistochemistry: 2.5 μg/mL. In paraffin embedded Human Thymic medula showsstaining of select nuclei.
AIRE is a transcriptional regulator that is thought to be important in controlling tissue-specific expression of genes in the thymus. The precise function of the protein is not well defined. It contains zinc finger motifs and isoform 1 is localized to both the nucleus and cytoplasm. Three splice variant mRNAs products have been described. The longer AIRE1 mRNA appears to be more abundant and includes exons 1 through 14. Splice variant AIRE2 includes a portion of the non-coding region of exon 1, an alternatively spliced longer exon 8, plus exons 9 through 14. Variant AIRE3 includes the same exon 1-8-9 sequences as found in AIRE2 but utilizes additional alternative splicing in exon 10 that shifts the reading frame such that a stop codon in exon 12 is utilized. The resulting protein products of these splice variants differ significantly. Defects in this gene cause the autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).Synonyms: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein, Autoimmune regulator