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Genetics Home Reference: your guide to understanding genetic conditions
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RARS2

Reviewed November 2014

What is the official name of the RARS2 gene?

The official name of this gene is “arginyl-tRNA synthetase 2, mitochondrial.”

RARS2 is the gene's official symbol. The RARS2 gene is also known by other names, listed below.

What is the normal function of the RARS2 gene?

The RARS2 gene provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase. This enzyme is active in cell structures called mitochondria. Each cell contains hundreds or thousands of mitochondria, which convert the energy from food into a form that cells can use.

Mitochondrial arginyl-tRNA synthetase interacts with a molecule called transfer RNA (tRNA). This molecule, which is a chemical cousin of DNA, helps assemble protein building blocks called amino acids into functioning proteins. To build new proteins, tRNA must collect different amino acids and then attach them to one another in the correct order. Mitochondrial arginyl-tRNA synthetase is one of several enzymes that link amino acids to tRNA. Specifically, this enzyme links the amino acid arginine to the tRNA molecule, which then incorporates it into new proteins in mitochondria.

Does the RARS2 gene share characteristics with other genes?

The RARS2 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.

How are changes in the RARS2 gene related to health conditions?

pontocerebellar hypoplasia - caused by mutations in the RARS2 gene

At least 13 mutations in the RARS2 gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and intellectual disability. Most of the known RARS2 gene mutations cause a form of the disorder designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found in an individual with the characteristic features of another form of the condition, pontocerebellar hypoplasia type 1 (PCH1).

The RARS2 gene mutations that cause pontocerebellar hypoplasia significantly reduce or eliminate the function of mitochondrial arginyl-tRNA synthetase. A loss of this enzyme's function likely disrupts the production of new proteins in mitochondria. However, it is unknown how these changes lead to abnormal brain development in people with pontocerebellar hypoplasia.

Where is the RARS2 gene located?

Cytogenetic Location: 6q16.1

Molecular Location on chromosome 6: base pairs 87,499,346 to 87,590,016

The RARS2 gene is located on the long (q) arm of chromosome 6 at position 16.1.

The RARS2 gene is located on the long (q) arm of chromosome 6 at position 16.1.

More precisely, the RARS2 gene is located from base pair 87,499,346 to base pair 87,590,016 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RARS2?

You and your healthcare professional may find the following resources about RARS2 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 RARS2 gene or gene products?

  • arginine-tRNA ligase
  • arginyl-tRNA synthetase 2, mitochondrial precursor
  • arginyl-tRNA synthetase-like
  • ArgRS
  • DALRD2
  • dJ382I10.6
  • MGC14993
  • MGC23778
  • PRO1992
  • RARSL
  • SYRM_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RARS2?

acids ; amino acid ; arginine ; cell ; disability ; DNA ; enzyme ; gene ; hypoplasia ; ligase ; mitochondria ; molecule ; mutation ; precursor ; protein ; RNA ; transfer RNA ; tRNA

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

References

  • OMIM: ARGINYL-tRNA SYNTHETASE 2 (http://omim.org/entry/611524)
  • Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. (http://www.ncbi.nlm.nih.gov/pubmed/22569581?dopt=Abstract)
  • Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007 Oct;81(4):857-62. Epub 2007 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/17847012?dopt=Abstract)
  • Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16. (http://www.ncbi.nlm.nih.gov/pubmed/22086604?dopt=Abstract)
  • Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. (http://www.ncbi.nlm.nih.gov/pubmed/20952379?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/57038)

 

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.

 
Reviewed: November 2014
Published: August 24, 2015