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- Table of Contents
Facts about Probable leucine--tRNA ligase, mitochondrial.
Human | |
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Gene Name: | LARS2 |
Uniprot: | Q15031 |
Entrez: | 23395 |
Belongs to: |
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class-I aminoacyl-tRNA synthetase family |
EC 6.1.1; EC 6.1.1.4; KIAA0028leucine tRNA ligase 2, mitocondrial; leucine translase; Leucine--tRNA ligase; leucyl-tRNA synthetase 2, mitochondrial; LEURS; MGC26121; probable leucyl-tRNA synthetase, mitochondrial
Mass (kDA):
101.976 kDA
Human | |
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Location: | 3p21.31 |
Sequence: | 3; NC_000003.12 (45388564..45549407) |
Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.
Mitochondrion matrix.
PMID: 20194621 by Li R., et al. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
PMID: 23541342 by Pierce S.B., et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.