FITC标记的Allgrove综合征相关蛋白抗体
英文名称：Anti-Adracalin/FITC
中文名称别名：AAA; AAAS; AAASb; Achalasia adrenocortical insufficiency alacrimia (Allgrove triple A); Achalasia adrenocortical insufficiency alacrimia; ADRACALA; Aladin; Allgrove triple A; DKFZp586G1624; GL003; AAAS_HUMAN.
规格：100ul
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
抗体来源  ：兔
克隆类型：多克隆
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交叉反应：Human, Mouse, Rat, Cow,
产品应用：ICC = 1：50-200 IF = 1：50-200
在其他应用程序尚未进行测试。
最佳稀释/浓度：应该由最终用户来确定。
分子量:约为60kDa
性状：冻干或液体
浓度：为1mg / ml
亚型IgG抗体
纯化方法：affinity purified by Protein A
储存液防腐剂：15毫米的叠氮化钠，成分：1％BSA，0.01M的PBS，pH 7.4中
保存条件：储存在-20℃一年。避免反复冷冻/解冻循环。当保持在-20℃下冻干抗体是在室温下稳定至少一个月，对于大于一年。当在无菌的pH 7.4的0.01M PBS或抗体的稀释液重构的抗体可稳定至少两周，在2-4℃。
产品图片：

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 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

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.