GO curators for mouse genes have assigned the following annotations to the gene product of Aaas. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 11, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Aaas
participates in the following biological processes:
Annotations directly to molecular function for the gene Aaas indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.
Huebner A et al. (2006) Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol, 26:1879-87. (PubMed:16479006)