**调节蛋白础滨搁贰抗体
规格：1尘驳/1尘濒
英文名： AIRE
别名： AIRE-1; AIRE; AIRE_HUMAN; AIRE1; APECED; APECED protein; APS1; APSI; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; Autoimmune regulator; Autoimmune regulator protein; PGA1.
分子量： 58kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PGA1/AIR
交叉反应：Human, Mouse, Rat, Dog, Horse,
细胞定位：细胞核 细胞浆
**调节蛋白础滨搁贰抗体产物介绍：background: The autoimmune regulator gene, which is defective in the hereditary auto-immune disease APECED, encodes the transcriptional activator AIRE. AIRE is expressed in the medullary epithelial cells and monocyte-dendritic cells of the thymus, with lower expression in the spleen, fetal liver and lymph nodes. In tissue, AIRE expression in the thymus is confined to the medulla and the cortico-medullary junction, where it is modulated by thymocytes undergoing negative selection. At the cellular level, AIRE is located in microtubular structures of the cyto-skeleton and in discrete nuclear dots resembling ND10 nuclear bodies. AIRE is induced by developing early thymocytes and is associated with the correct establishment of a regular thymic environment. AIRE regulates thymic architecture via transcriptional control of downstream target genes. AIRE mutations in APECED patients may affect thymic T cell selection and the formation of self-tolerance. 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**调节蛋白础滨搁贰抗体 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. Subcellular Location: Nucleus. Cytoplasm. Associated with tubular structures and in discrete nuclear dots resembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm.Target information above from: UniProt accession O43918 The UniProt Consortium The Universal Protein Resource (UniProt) in 2010 Nucleic Acids Res. 38:D142-D148 (2010) . Information by UniProt Tissue Specificity: 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. Post-translational modifications: Phosphorylated. Phosphorylation could trigger oligomerization. DISEASE: Defects in AIRE are a cause of autoimmune poly-endocrinopathy candidiasis **调节蛋白础滨搁贰抗体ectodermal dystrophy (APECED) [MIM:240300]; also known as autoimmune polyglandular syndrome type I (APS-1). APECED is an autosomal recessive disease characterized by: (1) autoimmune polyendocrinopathies: hypoparathyroidism, adrenocortical failure, IDDM, gonadal failure, hypothyroidism, pernicious anemia, and hepatitis; (2) chronic mucocutaneous candidiasis; (3) ectodermal dystrophies: vitiligo, alopecia, keratopathy, dystrophy of dental enamel, nails and tympanic membranes. In addition, a high proportion of patients develop squamous cell carcinoma of the oral mucosa. The disease is reported worldwide but is exceptionally prevalent among the Finnish population (incidence 1:25000) and the Iranian jews (incidence 1:9000). Note=Most of the mutations alter the nucleus-cytoplasm distribution of AIRE and disturb its association with nuclear dots and cytoplasmic filaments. Most of the mutations also decrease transactivation of the protein. The HSR domain is responsible for the homomultimerization activity of AIRE. All the missense mutations of the HSR and the SAND domains decrease this activity, but those in other domains do not. The AIRE protein is present in soluble high-molecular-weight complexes. Mutations in the HSR domain and deletion of PHD zinc fingers disturb the formation of these complexes. Similarity: Contains 1 HSR domain. Contains 2 PHD-type zinc fingers. Contains 1 SAND domain. Gene ID: 326 Database links: Entrez Gene: 326 Human Entrez Gene: 11634 Mouse Entrez Gene: 294328 Rat Entrez Gene: 487796 Dog Omim: 607358 Human SwissProt: O43918 Human SwissProt: Q9Z0E3 Mouse Unigene: 129829 Human Unigene: 35300 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
**调节蛋白础滨搁贰抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 信号转导 转录调节因子 锌指蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid