Showing 1-  of  Publications
Mol Biol Cell
The Nucleoporin ALADIN Regulates Aurora A Localization to Ensure Robust Mitotic Spindle Formation.
Images See all
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)