Allgrove综合征相关蛋白抗体

英文名称  Anti-Adracalin 

中文名称  Allgrove综合征相关蛋白抗体 

别    名  AAA; AAAS; AAASb; Achalasia adrenocortical insufficiency alacrimia (Allgrove triple A); Achalasia adrenocortical insufficiency alacrimia; ADRACALA; Aladin; Allgrove triple A; DKFZp586G1624; GL003; AAAS_HUMAN. 

浓    度  1mg/1ml 

规 格  0.2ml/200μg  

抗体来源  Rabbit  

克隆类型  polyclonal 

交叉反应  Human, Mouse, Rat, Cow   

产品类型  一抗    

Allgrove综合征相关蛋白抗体研究领域  细胞生物 免疫学 发育生物学 神经生物学 细胞类型标志物  

蛋白分子量  predicted molecular weight: 60kDa 

性    状  Lyophilized or Liquid 

免 疫 原  KLH conjugated synthetic peptide derived from human Adracalin 

亚    型  IgG 

纯化方法  affinity purified by Protein A 

储 存 液  Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4 

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.  

保存条件  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. 

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介绍 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 development 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 or 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