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Achalasia, Adrenocortical Insufficiency, Alacrimia (AAAS) ELISA Kits

The protein encoded by AAAS 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. Additionally we are shipping Adracalin Antibodies (50) and Adracalin Proteins (5) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
AAAS 300259  
AAAS 8086 Q9NRG9
AAAS 223921 P58742
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Top Adracalin ELISA Kits at antibodies-online.com

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Catalog No. Reactivity Sensitivity Range Quantity Supplier Delivery Price Details
Human
96 Tests Log in to see 11 to 13 Days
$875.60
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Mouse
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$875.60
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Chicken
96 Tests Log in to see 16 to 21 Days
$999.43
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Human
96 Tests Log in to see 16 to 21 Days
$999.43
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More ELISA Kits for Adracalin Interaction Partners

Human Achalasia, Adrenocortical Insufficiency, Alacrimia (AAAS) interaction partners

  1. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.

  2. 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

  3. Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein (show STAR ELISA Kits)) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1 (show CYP11B1 ELISA Kits)).

  4. The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.

  5. identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome

  6. 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.

  7. 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.

  8. 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.

  9. ALADIN interact with FTH1 (show FTH1 ELISA Kits) and FTH1 (show FTH1 ELISA Kits) nuclear translocation is enhanced when ALADIN is coexpressed.

  10. 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

Adracalin (AAAS) Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with AAAS

  • achalasia, adrenocortical insufficiency, alacrimia (Aaas) antibody
  • achalasia, adrenocortical insufficiency, alacrimia (aaas) antibody
  • achalasia, adrenocortical insufficiency, alacrimia (AAAS) antibody
  • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) (LOC100356621) antibody
  • AAA antibody
  • AAASb antibody
  • ADRACALA antibody
  • ADRACALIN antibody
  • ALADIN antibody
  • D030041N15Rik antibody
  • GL003 antibody
  • zgc:85873 antibody

Protein level used designations for AAAS

achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) , aladin , Aladin , achalasia, adrenocortical insufficiency, alacrimia , aladin-like , Allgrove, triple-A , adracalin

GENE ID SPECIES
300259 Rattus norvegicus
378454 Danio rerio
446908 Xenopus laevis
467003 Pan troglodytes
506561 Bos taurus
607867 Canis lupus familiaris
100063811 Equus caballus
100356621 Oryctolagus cuniculus
100405154 Callithrix jacchus
100468100 Ailuropoda melanoleuca
100485071 Xenopus (Silurana) tropicalis
100553207 Anolis carolinensis
100586295 Nomascus leucogenys
8086 Homo sapiens
223921 Mus musculus
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