Aliases for AAAS Gene
External Ids for AAAS Gene
Previous GeneCards Identifiers for AAAS Gene
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
GeneCards Summary for AAAS Gene
AAAS (Aladin WD Repeat Nucleoporin) is a Protein Coding gene. Diseases associated with AAAS include Achalasia-Addisonianism-Alacrima Syndrome and Spastic Paraparesis. Among its related pathways are Cellular Senescence (REACTOME) and Transport of Mature Transcript to Cytoplasm.
UniProtKB/Swiss-Prot Summary for AAAS Gene
Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606).