Achalasia, Adrenocortical Insufficiency, Alacrimia (AAAS) Kits ELISA

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. De plus, nous expédions Adracalin Anticorps (59) et Adracalin Protéines (5) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
Anti-Rat AAAS AAAS 300259  
AAAS 8086 Q9NRG9
AAAS 223921 P58742
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Plus Kits ELISA pour Adracalin partenaires d'interaction

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

  1. This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function.

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

  3. 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

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

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

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

  7. 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.

  8. 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.

  9. 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.

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

Adracalin (AAAS) profil antigène

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

  • aladin WD repeat nucleoporin (Aaas) anticorps
  • achalasia, adrenocortical insufficiency, alacrimia (aaas) anticorps
  • aladin WD repeat nucleoporin L homeolog (aaas.L) anticorps
  • aladin WD repeat nucleoporin (AAAS) anticorps
  • aladin WD repeat nucleoporin (aaas) anticorps
  • achalasia, adrenocortical insufficiency, alacrimia (Aaas) anticorps
  • AAA anticorps
  • AAASb anticorps
  • ADRACALA anticorps
  • ADRACALIN anticorps
  • ALADIN anticorps
  • D030041N15Rik anticorps
  • GL003 anticorps
  • zgc:85873 anticorps

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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