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Reviewed April 2015
What is the official name of the ASPA gene?
The official name of this gene is “aspartoacylase.”
ASPA is the gene's official symbol. The ASPA 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 ASPA gene?
The ASPA gene provides instructions for making an enzyme called aspartoacylase. In the brain, this enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) into aspartic acid (an amino acid that is a building block of many proteins) and another molecule called acetic acid.
The production and breakdown of NAA appears to be critical for maintaining the brain's white matter, which consists of nerve fibers surrounded by a myelin sheath. The myelin sheath is the covering that protects nerve fibers and promotes the efficient transmission of nerve impulses. The precise function of NAA is unclear. Researchers had suspected that it played a role in the production of the myelin sheath, but recent studies suggest that NAA does not have this function. The enzyme may instead be involved in the transport of water molecules out of nerve cells (neurons).
How are changes in the ASPA gene related to health conditions?
Where is the ASPA gene located?
Cytogenetic Location: 17p13.3
Molecular Location on chromosome 17: base pairs 3,474,110 to 3,499,406
The ASPA gene is located on the short (p) arm of chromosome 17 at position 13.3.
More precisely, the ASPA gene is located from base pair 3,474,110 to base pair 3,499,406 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ASPA?
You and your healthcare professional may find the following resources about ASPA 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 ASPA 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 ASPA?
alanine ; amino acid ; Ashkenazi Jewish ; Asp ; aspartic acid ; breakdown ; compound ; enzyme ; gene ; glutamic acid ; inherited ; juvenile ; L-aspartic acid ; leukodystrophy ; molecule ; mutation ; myelin sheath ; neonatal ; nervous system ; protein ; white matter
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.