Aladin (protein)

Aladin, also known as WD repeat-containing protein 13A (WDR13A), is a protein encoded by the ALADIN gene (also known as AAAS) located on chromosome 12q13 in humans. It is a component of the nuclear pore complex (NPC), specifically associated with the nuclear basket.

The protein's name is derived from the acronym "ALCR-associated protein involved in adrenal hypoplasia, achalasia, and alacrima due to defective nuclear import," reflecting its connection to Allgrove syndrome (also known as Triple-A syndrome). Allgrove syndrome is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia (a motility disorder of the esophagus), and alacrima (lack of tear production). Mutations in the ALADIN gene are the primary cause of Allgrove syndrome.

Aladin is a highly conserved protein across many species, suggesting a fundamental role in cellular function. It contains WD40 repeats, a structural motif that mediates protein-protein interactions and is involved in the formation of multi-protein complexes.

The precise function of Aladin remains an area of ongoing research. However, it is known to be involved in nucleocytoplasmic transport, DNA repair, and proper mitotic spindle assembly. Defective Aladin protein, as observed in Allgrove syndrome, impairs the trafficking of proteins into and out of the nucleus, leading to cellular dysfunction and the clinical manifestations of the syndrome. Furthermore, Aladin is implicated in maintaining genomic stability and protecting cells from oxidative stress.