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ASPA

ASPA

Aspartoacylase (aminoacylase 2, Canavan disease)

What is the normal function of the ASPA gene?

The ASPA gene makes an enzyme called aspartoacylase. In the brain, aspartoacylase breaks down the compound N-acetyl-L-aspartic acid (NAA). NAA is thought to play a part in the brain's use of a type of sugar called glucose and in moving molecules of water out of nerve cells. NAA is broken down into aspartic acid (an amino acid used in making proteins) and acetic acid. The cycle of making and breaking down NAA appears to be critical for maintaining the brain's white matter, which consists of nerve fibers covered by an insulating sheath called myelin.

What conditions are related to the ASPA gene?

Canavan disease - caused by mutations in the ASPA gene

More than 30 different mutations in the ASPA gene have been shown to cause Canavan disease, but three specific mutations are the most common. All mutations cause a deficiency in the enzyme aspartoacylase. As a result, NAA builds up in the brain and causes a chemical imbalance that destroys myelin. The exposed nerve fibers deteriorate, leading to the signs and symptoms of Canavan disease.

Where is the ASPA gene located?

17pter-p13

The ASPA gene is located on the short (p) arm of chromosome 17 between the end (terminal) of the arm and position 13.

The ASPA gene is located on the short (p) arm of chromosome 17 between the end (terminal) of the arm and position 13.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find information about ASPA?

You and your healthcare professional may find the following resources about ASPA helpful.

  • Gene TestsThis link leads to a site outside Genetics Home Reference. - DNA tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ASPA gene or gene products?

  • ACY2
  • ACY2_HUMAN
  • Aminoacylase 2
  • aminoacylase II
  • ASP
  • aspartoacylase
  • aspartoacylase (aminoacylase 2)
  • N-acyl-L-aspartate amidohydrolase

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 ASPA?

amino acid ; compound ; deficiency ; enzyme ; gene ; glucose ; molecule ; mutation ; nerve cell ; protein ; sign ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 
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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.
 
Last Comprehensive Review: May 2004
Updated: June 29, 2004
Published: October 8, 2004
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