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. Zusätzlich bieten wir Ihnen Adracalin Antikörper (56) und Adracalin Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Ratte AAAS AAAS 300259  
AAAS 8086 Q9NRG9
AAAS 223921 P58742
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96 Tests Anmelden zum Anzeigen 13 bis 17 Tage
788,70 €
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Weitere ELISA Kits für Adracalin Interaktionspartner

Human Achalasia, Adrenocortical Insufficiency, Alacrimia (AAAS) Interaktionspartner

  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 (zeige STAR ELISA Kits)) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1 (zeige CYP11B1 ELISA Kits)).

  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 (zeige FTH1 ELISA Kits) and FTH1 (zeige FTH1 ELISA Kits) nuclear translocation is enhanced when ALADIN is coexpressed.

Adracalin (AAAS) Antigen-Profil

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit AAAS

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

Bezeichner auf Proteinebene für AAAS

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

GENE ID SPEZIES
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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