产品名称
Aladin Rabbit Polyclonal Antibody
别名
AAAS; ADRACALA; GL003; Aladin; Adracalin
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=8086
Human Swissprot No.
Q9NRG9
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q9NRG9/entry
Mouse Swissprot No.
P58742
Mouse Swissprot Link
http://www.uniprot.org/uniprot/P58742
免疫原
Synthesized peptide derived from Aladin . at AA range: 360-440
特异性
Aladin Polyclonal Antibody detects endogenous levels of Aladin protein.
稀释度
WB 1:500 - 1:2000. ELISA: 1:40000. Not yet tested in other applications.
宿主
Polyclonal, Rabbit,IgG
背景介绍
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010],
组织表达
Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).
细胞定位
Nucleus, nuclear pore complex . Cytoplasm, cytoskeleton, spindle pole . Nucleus envelope . In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate (PubMed:26246606). The localization to the spindle is microtubule-mediated (PubMed:26246606). .
功能
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.,function:Plays a role in the normal development of the peripheral and central nervous system.,similarity:Contains 4 WD repeats.,tissue specificity:Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituary gland, gatsrointestinal structures and fetal lung.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
