leucyl-tRNA synthetase 2, mitochondrial
Zuletzt aktualisiert 18. Aug 2020
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Der LARS2 gene provides instructions for making an enzyme called mitochondrial leucyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria.
Normal function
Der LARS2 gene provides instructions for making an enzyme called mitochondrial leucyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria.
During protein synthesis, in either the mitochondria or the cytoplasm, a type of RNA called transfer RNA (tRNA) helps assemble protein building blocks (amino acids) into a chain that forms the protein. Each tRNA carries a specific amino acid to the growing chain. Enzymes called aminoacyl-tRNA synthetases, including mitochondrial leucyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. Mitochondrial leucyl-tRNA synthetase attaches the amino acid leucine to the correct tRNA, which helps ensure that leucine is added at the proper place in the mitochondrial protein.
Conditions referring to this gene or chromosome
Other names
KIAA0028
leucine translase
leucine tRNA ligase 2, mitochondrial
leucyl-tRNA synthetase 2
LEURS
MGC26121
mtLeuRS
PRLTS4
probable leucine--tRNA ligase, mitochondrial
probable leucyl-tRNA synthetase, mitochondrial
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Weiterführende Lektüre und Referenzen
- leucyl-tRNA synthetase 2, mitochondrial; MedlinePlus, National Library of Medicine.
- Konovalova S, Tyynismaa H. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab. 2013 Apr;108(4):206-11. doi: 10.1016/j.ymgme.2013.01.010. Epub 2013 Jan 26.
- Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar 28.
- Schwenzer H, Zoll J, Florentz C, Sissler M. Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases. Top Curr Chem. 2014;344:247-92. doi: 10.1007/128_2013_457.
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18. Aug 2020 | Neueste Version
1 Dec 2014 | Ursprünglich veröffentlicht
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