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Reviewed February 2010
What is the official name of the AAAS gene?
The official name of this gene is “achalasia, adrenocortical insufficiency, alacrimia.”
AAAS is the gene's official symbol. The AAAS gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the AAAS gene?
The AAAS gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus.
Does the AAAS gene share characteristics with other genes?
The AAAS gene belongs to a family of genes called WDR (WD repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the AAAS gene related to health conditions?
Where is the AAAS gene located?
Cytogenetic Location: 12q13
Molecular Location on chromosome 12: base pairs 53,701,239 to 53,715,411
The AAAS gene is located on the long (q) arm of chromosome 12 at position 13.
More precisely, the AAAS gene is located from base pair 53,701,239 to base pair 53,715,411 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AAAS?
You and your healthcare professional may find the following resources about AAAS helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the AAAS gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding AAAS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.