Reviewed June 2006
What is the official name of the ASS1 gene?
The official name of this gene is “argininosuccinate synthetase 1.”
ASS1 is the gene's official symbol. The ASS1 gene is also known by other names, listed below.
What is the normal function of the ASS1 gene?
The ASS1 gene provides instructions for making an enzyme called argininosuccinate synthetase 1. This enzyme participates in the urea cycle, which is a sequence of chemical reactions that takes place in liver cells. The urea cycle processes excess nitrogen that is generated as the body uses proteins. The excess nitrogen is used to make a compound called urea, which is excreted from the body in urine.
Argininosuccinate synthetase 1 is responsible for the third step of the urea cycle. This step combines two protein building blocks (amino acids), citrulline and aspartate, to form a molecule called argininosuccinic acid. A series of additional chemical reactions uses argininosuccinic acid to form urea.
How are changes in the ASS1 gene related to health conditions?
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citrullinemia - caused by mutations in the ASS1 gene
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At least 50 mutations that cause type I citrullinemia have been identified in the ASS1 gene. Most of these mutations change single amino acids in the argininosuccinate synthetase 1 enzyme. These genetic changes likely alter the structure of the enzyme, impairing its ability to bind to molecules such as citrulline and aspartate. A few mutations lead to the production of an abnormally short version of the enzyme that cannot effectively play its role in the urea cycle.
Defects in argininosuccinate synthetase 1 disrupt the third step of the urea cycle, preventing the liver from processing excess nitrogen into urea. As a result, nitrogen (in the form of ammonia) and other byproducts of the urea cycle (such as citrulline) build up in the bloodstream. Ammonia is toxic, particularly to the nervous system. An accumulation of ammonia during the first few days of life leads to poor feeding, vomiting, seizures, and the other signs and symptoms of type I citrullinemia.
Where is the ASS1 gene located?
Cytogenetic Location: 9q34.1
Molecular Location on chromosome 9: base pairs 132,310,092 to 132,366,481
The ASS1 gene is located on the long (q) arm of chromosome 9 at position 34.1.
More precisely, the ASS1 gene is located from base pair 132,310,092 to base pair 132,366,481 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ASS1?
You and your healthcare professional may find the following resources about ASS1 helpful.
- Educational resources - Information pages
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- Gene Tests
- DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM
- Genetic disorder catalog
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What other names do people use for the ASS1 gene or gene products?
- ASS
- ASSY_HUMAN
- Citrulline-aspartate ligase
- CTLN1
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 ASS1?
acids ;
amino acid ;
ammonia ;
cell ;
compound ;
enzyme ;
gene ;
ligase ;
molecule ;
mutation ;
nervous system ;
protein ;
seizure ;
sign ;
symptom ;
synthetases ;
toxic ;
urea
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.