Entrez gene ID | | 8086 |
Official gene symbol | | AAAS |
Full name | | achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) |
Aliases | | ,AAA,AAASb,ADRACALA,ADRACALIN,ALADIN,DKFZp586G1624,GL003, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q13 |
Gene position | | 53715412 - 53701240 Map Viewer |
Gene orientation | | minus |
Gene size | | 14173 bp |
Gene sequence |
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OMIM ID | | 605378 |
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