Allgrove综合征相关蛋白抗体
规格：1mg/1ml
英文名： Adracalin
别名： AAA; AAAS; AAASb; Achalasia adrenocortical insufficiency alacrimia (Allgrove triple A); Achalasia adrenocortical insufficiency alacrimia; ADRACALA; Aladin; Allgrove triple A; DKFZp586G1624; GL003; AAA
分子量： 60kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
免疫原：KLH conjugated synthetic peptide derived from human Adracali
交叉反应：Human, Mouse, Rat, Cow,
细胞定位：
Allgrove综合征相关蛋白抗体产品介绍：background: Aladin (Adracalin) belongs to a family of WD repeat-containing proteins. These proteins have a wide variety of functions, including signal transduction regulation, RNA processing and transcription. Aladin plays a role in peripheral and central nervous system development. It is widely expressed, with the highest expression seen in pituitary gland, corpus callosum, cerebellum, adrenal gland and gastrointestinal structures. Defects in Aladin cause the autosomal recessive disorder achalasia-addisonianism-alacrima (triple A) syndrome. Triple A syndrome is characterized by achalasia, alacrima and adrenocortico-tropin-resistant adrenal insufficiency. Robust expression in neural systems associated with cognitive, motor and sensory functions is consistent with the myriad of symptoms experienced by patients with triple A syndrome. Function: Adracalin (AAAS) is expressed in both neuroendocrine and cerebral structures and may function in the normal developmentAllgrove综合征相关蛋白抗体 of the peripheral and central nervous system. It localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAA syndrome); also known as triple-A syndrome or Allgrove syndrome. Subcellular Location: nuclear pore Tissue Specificity: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung. DISEASE: Defects in AAAS are the cause of achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]; also known as triple-A syndrome orAllgrove综合征相关蛋白抗体 Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. Similarity: Contains 4 WD repeats. Database links: UniProtKB/Swiss-Prot: Q9NRG9.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Allgrove综合征相关蛋白抗体产品应用：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 免疫学 发育生物学 神经生物学 细胞类型标志物
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid