InterPro domain: IPR045139
General Information
- Identifier IPR045139
- Description Aladin
- Number of genes 126
- Gene duplication stats Loading...
Abstract
Aladin is a WD-repeat protein that regulates Aurora A localization to ensure robust mitotic spindle formation [ 1 ]. Mutations in the Aladin gene cause Achalasia-addisonianism-alacrima syndrome (AAAS), an autosomal recessive disorder characterised by adrenocorticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima [ 2 ].
1. The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. Mol Biol Cell 26, 3424-38
2. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10, 283-90
Species distribution
Gene table
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