Leucine–tRNA ligase, mitochondrial
Enzyme found in humans
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Leucine–tRNA ligase, mitochondrial, also called leucyl-tRNA synthetase 2, mitochondrial, is an enzyme that in humans is encoded by the LARS2 gene.[5][6] Like leucine–tRNA ligase, cytoplasmic (LARS1), this enzyme functions as a leucine–tRNA ligase,[7] meaning it binds the amino acid leucine to the corresponding transfer RNA, tRNALeu, as part of protein synthesis.[6]
| LARS2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | LARS2, LEURS, PRLTS4, mtLeuRS, leucyl-tRNA synthetase 2, mitochondrial, HLASA | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604544; MGI: 2142973; GeneCards: LARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This enzyme is a class 1 aminoacyl-tRNA synthetase. It participates in RNA-to-protein translation by binding the amino acid leucine to the corresponding transfer RNA, tRNALeu.[6]
Medical significance
Pathogenic (homozygous or compound heterozygous) mutations in LARS2 are associated with deafness and ovarian disgenesis, called Perrault syndrome-4 (PRLTS4).[8] In some cases, people with certain pathogenic (compound heterozygous) mutations suffer from more severe symptoms starting in the womb such as anemia and hydrops (fluid build-up), and breathing difficulties after birth which can lead to death. This more severe syndrome is called hydrops, lactic acidosis, and sideroblastic anemia (HLASA)[9]
