histidyl-tRNA synthetase 2, mitochondrial
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L HARS2 gene provides instructions for making an enzyme called mitochondrial histidyl-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
L HARS2 gene provides instructions for making an enzyme called mitochondrial histidyl-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 histidyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. Mitochondrial histidyl-tRNA synthetase attaches the amino acid histidine to the correct tRNA, which helps ensure that histidine is added at the proper place in the mitochondrial protein.
Conditions referring to this gene or chromosome
Altri nomi
HARS-related
HARSL
HARSR
hisRS
histidine translase
histidine tRNA ligase 2, mitochondrial (putative)
histidine-tRNA ligase homolog
histidyl-tRNA synthetase 2
histidyl-tRNA synthetase 2, mitochondrial (putative)
HO3
PRLTS2
probable histidine--tRNA ligase, mitochondrial
probable histidine--tRNA ligase, mitochondrial isoform 2
probable histidine--tRNA ligase, mitochondrial isoform 3
probable histidyl-tRNA synthetase, mitochondrial
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Ulteriori letture e riferimenti
- histidyl-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, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.
- 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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