Reviewed April 2007
What is the official name of the YARS gene?
The official name of this gene is “tyrosyl-tRNA synthetase.”
YARS is the gene's official symbol. The YARS gene is also known by other names, listed below.
What is the normal function of the YARS gene?
The YARS gene provides instructions for making an enzyme called tyrosyl-tRNA synthetase. This enzyme is found in all cells and plays an important role in the production (synthesis) of proteins. During protein synthesis, building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Tyrosyl-tRNA synthetase plays a role in adding the amino acid tyrosine at the proper place in a protein's chain of amino acids.
In addition to its role in protein synthesis, tyrosyl-tRNA synthetase appears to have other functions. Under certain conditions, such as inflammation, this enzyme is cleaved into two fragments called mini-tyrRS and C-tyrRS. Research findings indicate that mini-tyrRS promotes the growth of new blood vessels (angiogenesis). Both fragments appear to stimulate the movement of particular cells, such as white blood cells that help fight infection.
How are changes in the YARS gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the YARS gene
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Mutations in the YARS gene cause a form of Charcot-Marie-Tooth disease known as dominant intermediate C. Two YARS mutations change one of the amino acids used to make tyrosyl-tRNA synthetase. One mutation replaces the amino acid glycine with the amino acid arginine at protein position 41 (written as Gly41Arg or G41R). The other mutation replaces the amino acid glutamic acid with the amino acid lysine at protein position 196 (written as Glu196Lys or E196K). A third YARS mutation results in an altered version of the tyrosyl-tRNA synthetase enzyme that is missing four amino acids. Mutations in the YARS gene probably cause a decrease in the activity of tyrosyl-tRNA synthetase, which could affect the synthesis of any protein that contains tyrosine. It is unclear how these mutations lead to the dominant intermediate C form of Charcot-Marie-Tooth disease.
Where is the YARS gene located?
Cytogenetic Location: 1p35.1
Molecular Location on chromosome 1: base pairs 33,013,426 to 33,056,219
The YARS gene is located on the short (p) arm of chromosome 1 at position 35.1.
More precisely, the YARS gene is located from base pair 33,013,426 to base pair 33,056,219 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about YARS?
You and your healthcare professional may find the following resources about YARS helpful.
- Educational resources - Information pages
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 YARS gene or gene products?
- SYYC_HUMAN
- Tyrosyl-tRNA Ligase
- tyrRS
- YRS
- YTS
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 YARS?
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.