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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.
The YARS gene provides instructions for making an enzyme called tyrosyl-tRNA synthetase. This enzyme is found in all cells, where it 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 the chain of amino acids that makes up the protein. 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 cut (cleaved) into two fragments called mini-tyrRS and C-tyrRS. Research indicates 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.
The YARS gene belongs to a family of genes called aaRS (aminoacyl tRNA synthetases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least three mutations in the YARS gene cause a form of Charcot-Marie-Tooth disease known as dominant intermediate C. One mutation replaces the amino acid glycine with the amino acid arginine at protein position 41 of the tyrosyl-tRNA synthetase enzyme (written as Gly41Arg or G41R). Another mutation replaces the amino acid glutamic acid with the amino acid lysine at protein position 196 (written as Glu196Lys or E196K). A third YARS gene mutation results in an altered version of the tyrosyl-tRNA synthetase enzyme that is missing four amino acids. Mutations in the YARS gene probably reduce 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.
Cytogenetic Location: 1p35.1
Molecular Location on chromosome 1: base pairs 33,240,839 to 33,283,632
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 33,240,839 to base pair 33,283,632 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about YARS helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; angiogenesis ; enzyme ; gene ; glycine ; infection ; inflammation ; ligase ; mutation ; protein ; synthesis ; tRNA ; tyrosine ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.