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.
Health Conditions Related to Genetic Changes
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.More About This Health Condition
Other Names for This Gene
- arginine-tRNA ligase
- arginyl-tRNA synthetase 2, mitochondrial precursor
- arginyl-tRNA synthetase-like
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- 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. Citation on PubMed
- 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. doi: 10.1086/521227. Epub 2007 Aug 24. Citation on PubMed or Free article on PubMed Central
- 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. Citation on PubMed
- 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, Krageloh-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. Citation on PubMed
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