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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AAAS (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8086
Official gene symbolAAAS
Full nameachalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
Aliases,AAA,AAASb,ADRACALA,ADRACALIN,ALADIN,DKFZp586G1624,GL003,
Gene summaryThe 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]
LocationChromosome: 12   Locus: 12q13
Gene position53715412 - 53701240  Map Viewer
Gene orientationminus
Gene size14173 bp
Gene sequence
OMIM ID605378