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Product Name Adracalin Chinese Name Allgrove综合征相关蛋白抗体 Alias AAA; AAAS; AAASb; Achalasia adrenocortical insufficiency alacrimia (Allgrove triple A); Achalasia adrenocortical insufficiency alacrimia; ADRACALA; Aladin; Allgrove triple A; DKFZp586G1624; GL003; AAAS_HUMAN. Research Area Cell biology immunology Developmental biology Neurobiology Cell type markers Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Cow, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 60kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Adracalin: 51-150/546 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
SWISS:
Q9NRG9
Gene ID:
8086
Database links:Entrez Gene: 8086 Human
Entrez Gene: 223921 Mouse
Omim: 605378 Human
SwissProt: Q9NRG9 Human
SwissProt: P58742 Mouse
Unigene: 369144 Human
Unigene: 352946 Mouse
Unigene: 104730 Rat
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