Aladin WD repeat nucleoporin (AAAS)

Aladin WD repeat nucleoporin is a protein encoded by the AAAS gene and belongs to the nucleoporin family, acting as a crucial gatekeeper at the nuclear pore complex, regulating molecular transport between the nucleus and the cytoplasm. It contains WD-repeat motifs enabling its multiple protein-protein interactions, including with lamins of the nuclear envelope, and is enriched in endocrine and nervous tissues. Mutations lead to Triple A syndrome, a rare autosomal recessive disorder characterized by achalasia, adrenal insufficiency, and alacrima, resulting primarily from impaired nucleocytoplasmic transport and compromised DNA repair, especially under oxidative stress. There are no drugs that target Aladin directly; instead, genetic testing for AAAS mutations confirms the diagnosis and informs clinical management.

Other names

AladinAAASADRACALAGL003AdracalinAllgroveTriple-Aachalasia–addisonianism–alacrima syndrome (Triple A syndrome)AAAAAASbadrenocortical insufficiencyalacrimia