AAAS Back

achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)

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NCBI Description of AAAS
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

AAAS is highly significantly mutated in
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AAAS is significantly mutated in
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AAAS is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for AAAS