Species Human Entrez 8086 | Human Mouse Ensembl ENSG00000094914 | |
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Aliases AAAS, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003, aladin WD repeat nucleoporin External IDs MGI: 2443767 HomoloGene: 9232 GeneCards: AAAS | ||
Aladin, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the AAAS gene. It is named after the achalasia-addisonianism-alacrima syndrome (triple A syndrome) which occurs when the gene is mutated.
Contents
Function
Aladin is a component of the nuclear pore complex, to which it is attached by nucleoporin NDC1.
Clinical significance
Mutations in the AAAS gene are responsible for Triple A syndrome (also known as Allgrove Syndrome).
References
Aladin (protein) Wikipedia(Text) CC BY-SA