AAAS Antibody

Datasheet
Code CSB-PA878867ESR2HU
Size US$167Purchase it in Cusabio online store
(only available for customers from the US)
Image
  • Western blot
    All lanes: Aladin antibody at 5μg/ml
    Lane 1: Hela whole cell lysate
    Lane 2: Mouse brain tissue
    Lane 3: NIH/3T3 whole cell lysate
    Secondary
    Goat polyclonal to rabbit IgG at 1/10000 dilution
    Predicted band size: 60, 56 kDa
    Observed band size: 60 kDa

  • Immunohistochemistry of paraffin-embedded human tonsil tissue using CSB-PA878867ESR2HU at dilution of 1:100

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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) AAAS Polyclonal antibody
Uniprot No. Q9NRG9
Target Names AAAS
Alternative Names AAAS antibody; ADRACALA antibody; GL003Aladin antibody; Adracalin antibody
Raised in Rabbit
Species Reactivity Human, Mouse
Immunogen Recombinant Human Aladin protein (287-546AA)
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Clonality Polyclonal
Isotype IgG
Purification Method Antigen Affinity Purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form Liquid
Tested Applications ELISA, WB, IHC
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:2000
IHC 1:20-1:200
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Data

Function Plays a role in the normal development of the peripheral and central nervous system.
Gene References into Functions
  1. Mutation in AAAS gene is associated with triple A syndrome. PMID: 29874194
  2. Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described. PMID: 29255950
  3. Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients. PMID: 29237697
  4. This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function. PMID: 27414811
  5. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. PMID: 25781531
  6. down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome PMID: 25867024
  7. Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1). PMID: 23825130
  8. The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein. PMID: 23073554
  9. identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome PMID: 21565631
  10. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings triple A syndrome. PMID: 20931227
  11. In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted. PMID: 20499090
  12. Study broadened the allelic and phenotypic spectrum of Allgrove syndrome due to AAAS mutations; the recurrence of the Leu469Pro mutation highlights a possible major role for this alteration in the Italian population. PMID: 20447142
  13. ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed. PMID: 19855093
  14. a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function PMID: 11815731
  15. plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN PMID: 12730363
  16. myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation PMID: 15022193
  17. In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. PMID: 15217518
  18. Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment. PMID: 15666842
  19. Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo. PMID: 15680696
  20. Data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome. PMID: 15843079
  21. novel splice variant AAAS-v2 encodes a 513-amino acid polypeptide, which contains three WD40 domains; AAAS-v2 and AAAS-v1 were ubiquitously detected in human tissues PMID: 16022285
  22. 3 subjects with classic AAAS did not have mutations in AAAS gene on both alleles. This supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded. PMID: 16098009
  23. The mutation of the AAAS gene is a novel mutation and this case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene. PMID: 16543750
  24. With transfection experiments, we analyzed the cellular localization of the wild-type and 17 natural mutant variants (9 missense, 5 nonsense, 3 frameshift mutations) of ALADIN. PMID: 16609705
  25. novel homozygous mutation within intron 5 (IVS5+1G-->A) illustrates the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome PMID: 16938764
  26. Report a case of adult onset Allgrove syndrome had no mutation in the ALADIN gene on chromosome 12q13. PMID: 18175081
  27. The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency. PMID: 19011813
  28. AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient. PMID: 19172511
  29. The study shows that ALADIN is a protein with a molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. ALADIN is localized in the nuclear membrane. PMID: 19322026
  30. NDC1-mediated localization of ALADIN to nuclear pore complexes is essential for selective nuclear protein import; abrogation of the interaction between ALADIN and NDC1 may be important for the development of triple-A syndrome. PMID: 19703420
  31. ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. PMID: 19782045

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Involvement in disease Achalasia-addisonianism-alacrima syndrome (AAAS)
Subcellular Location Nucleus, nuclear pore complex
Tissue Specificity Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).
Database Links

HGNC: 13666

OMIM: 231550

KEGG: hsa:8086

STRING: 9606.ENSP00000209873

UniGene: Hs.369144

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