What is the official name of the AARS gene?
The official name of this gene is “alanyl-tRNA synthetase.”
AARS is the gene's official symbol. The AARS 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 AARS gene?
- From NCBI Gene:
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
- From UniProt:
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.
How are changes in the AARS gene related to health conditions?
- Genetics Home Reference provides information about Charcot-Marie-Tooth disease, which is associated with changes in the AARS gene.
- UniProt provides the following information about the AARS gene's known or predicted involvement in human disease.
Charcot-Marie-Tooth disease 2N (CMT2N): An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the AARS gene.
- Charcot-Marie-Tooth disease, type 2N
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the AARS gene located?
Cytogenetic Location: 16q22
Molecular Location on chromosome 16: base pairs 70,252,393 to 70,289,554
The AARS gene is located on the long (q) arm of chromosome 16 at position 22.
More precisely, the AARS gene is located from base pair 70,252,393 to base pair 70,289,554 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about AARS?
You and your healthcare professional may find the following resources about AARS helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the AARS gene or gene products?
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 AARS?
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
See How can I find a genetics professional in my area? in the Handbook.