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.
Categories
Primary Antibodies
Cellular Localization
Nuclear Pore Complex, Nucleus
Clonality
polyclonal
Description
The AAAS gene product is the 60 kDa nuclear pore complex (NPC) protein alacrima-achalasia-adrenal insufficiency neurological disorder (ALADIN). AAAS mRNA and the ALADIN protein are ubiquitously expressed with predominance in the adrenal and central nervous system structures in human and rat. ALADIN, a Tryptophan-Aspartic acid (WD) repeat containing protein, was the first nuclear pore complex protein to be associated with hereditary neurodegenerative disease and the only nuclear pore complex protein to be associated with hereditary adrenal disease. ALADIN's precise function at the nuclear pore complex is unknown. Most naturally occurring AAAS mutations result in mislocalization of the abnormal ALADIN protein (mainly into the cytoplasm), implying that correct NPC targeting is vital for its function. (PMID: 23825130)