The nuclear pore complex: disease associations and functional correlations.

[triple a syndrome]

Nuclear pore complexes (NPCs ) are large protein structures spanning the double membrane of the eukaryotic nucleus that serve as sites for translocation of macromolecules between the nucleus and the cytoplasm . The vertebrate NPC has recently been found to comprise approximately 30 distinct proteins , collectively referred to as nucleoporins . Studies over the past several years have demonstrated that individual nucleoporins have unique roles in regulating NPC function and the nucleocytoplasmic transport of proteins and RNAs . The unique functions of individual nucleoporins have been made most clear through their associations with specific human diseases . Here , we highlight the relationships between individual nucleoporins and disease , with particular emphasis given to ALADIN , a nucleoporin linked to a genetically heritable human disease known as triple A syndrome .