AAAS (gene)

AAAS is a gene that provides instructions for making a protein called alachalasia-addisonianism-alacrima syndrome (AAAS) protein, also known as ALADIN. This protein is found in the nuclear envelope, which surrounds the nucleus in cells. The exact function of the AAAS protein is not known, but it is believed to play a crucial role in the normal functioning of the nervous system and the endocrine system.

Function

The AAAS gene is responsible for the production of the AAAS protein. This protein is a part of the nuclear pore complex, which regulates the movement of molecules into and out of the nucleus. The AAAS protein is thought to be involved in the regulation of gene expression, and it may also play a role in the normal functioning of the adrenal gland and the tear ducts.

Clinical significance

Mutations in the AAAS gene cause Triple A syndrome, a rare disorder characterized by three specific features: achalasia, addisonianism, and alacrima. Achalasia is a disorder that affects the ability to swallow, addisonianism (also known as Addison's disease) is a disorder that affects the production of hormones by the adrenal glands, and alacrima is a condition that affects the production of tears.

Genetics

The AAAS gene is located on the short (p) arm of chromosome 12 at position 13. More precisely, the AAAS gene is located from base pair 53,014,876 to base pair 53,025,673 on chromosome 12.

See also

• Triple A syndrome
• Nuclear pore
• Gene expression
• Chromosome 12

References

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