AAAS, Official Symbol AAASprovided by HGNC Official Full Name aladin WD repeat nucleoporinprovided by HGNC Primary source HGNC:HGNC:13666 See related Ensembl:ENSG00000094914 MIM:605378; AllianceGenome:HGNC:13666 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN 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] Expression Ubiquitous expression in testis (RPKM 20.2), adrenal (RPKM 16.0) and 25 other tissues See more Orthologs mouse all