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AAAS
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AAAS

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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.

How are changes in the AAAS gene related to health conditions?

triple A syndrome - caused by mutations in the AAAS gene

At least 49 mutations in the AAAS gene have been found to cause triple A syndrome. These mutations change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN likely disrupts the movement of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome.

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.

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?

  • AAA
  • AAASb
  • AAAS_HUMAN
  • achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
  • ADRACALA
  • ADRACALIN
  • ALADIN
  • DKFZp586G1624
  • GL003

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?

cell ; DNA ; DNA damage ; DNA repair ; gene ; molecule ; mutation ; nervous system ; nuclear envelope ; nucleus ; protein ; sign ; symptom ; syndrome

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.

 
Reviewed: February 2010
Published: May 21, 2012