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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 Proteine (5) und Adracalin Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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Mutation in AAAS gene is associated with triple A syndrome.
Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described.
Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients.
This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function.
Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
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
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 Antikörper)) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1 (zeige CYP11B1 Antikörper)).
The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein.
identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome
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.
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.
achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
, achalasia, adrenocortical insufficiency, alacrimia
, Allgrove, triple-A