Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
KARS

KARS

The information on this page was automatically extracted from online scientific databases.

What is the official name of the KARS gene?

The official name of this gene is “lysyl-tRNA synthetase.”

KARS is the gene's official symbol. The KARS 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 KARS gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation.

How are changes in the KARS gene related to health conditions?

Genetics Home Reference provides information about Charcot-Marie-Tooth disease, which is associated with changes in the KARS gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the KARS gene's known or predicted involvement in human disease.

Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB): A 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. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the KARS gene.
  • Charcot-Marie-Tooth disease, recessive intermediate B
  • Deafness, autosomal recessive 89
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the KARS gene and its association with health conditions.
OMIM
Number
Title

Where is the KARS gene located?

Cytogenetic Location: 16q23.1

Molecular Location on chromosome 16: base pairs 75,627,723 to 75,647,686

The KARS gene is located on the long (q) arm of chromosome 16 at position 23.1.

The KARS gene is located on the long (q) arm of chromosome 16 at position 23.1.

More precisely, the KARS gene is located from base pair 75,627,723 to base pair 75,647,686 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about KARS?

You and your healthcare professional may find the following resources about KARS 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 KARS gene or gene products?

  • CMTRIB
  • DFNB89
  • KARS1
  • KARS2
  • KRS

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 KARS?

acids ; amino acid ; ATP ; atrophy ; autoimmune ; autosomal ; autosomal recessive ; bilateral ; class ; cytoplasm ; distal ; gene ; HIV ; immune response ; isoforms ; Lys ; median nerve ; molecule ; monocyte ; motor ; nervous system ; peripheral ; peripheral nervous system ; prelingual ; primer ; protein ; recessive ; synthesis ; synthetases ; transcript ; transcription ; tRNA ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: March 23, 2015