AAAS

• Official Symbol: AAAS
• Official Name: aladin WD repeat nucleoporin
• Aliases and Previous Symbols: N/A
• Entrez ID: 8086
• UniProt: Q9NRG9
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez Summary: 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].
• UniProt Summary: Plays a role in the normal development of the peripheral and central nervous system.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 1369
• Expression level (log2 read counts): 5.71

Expression Distribution

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AAAS Expression in NALM6 Cells: 5.71