Product Information
Molecular Weight59574Da
Protein NameAladin
Human Gene Id8086
Human Swiss Prot NoQ9NRG9
Mouse Swiss Prot NoP58742
SpecificityAladin Polyclonal Antibody detects endogenous levels of Aladin protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameAAAS; ADRACALA; GL003; Aladin; Adracalin
Observed Band(KD)59
Functiondisease: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 feta
Subcellular LocationNucleus, 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). .
ExpressionWidely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).
Backgroundaladin WD repeat nucleoporin(AAAS) Homo sapiens 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],