Leucine–tRNA ligase, mitochondrial

LARS2
Identifiers
Aliases	LARS2, LEURS, PRLTS4, mtLeuRS, leucyl-tRNA synthetase 2, mitochondrial, HLASA
External IDs	OMIM: 604544; MGI: 2142973; GeneCards: LARS2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 3 (human)
End	45,554,726 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	123,291,731 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; oocyte; ; secondary oocyte; ; Brodmann area 23; ; mucosa of transverse colon; ; kidney tubule; ; caudate nucleus; ; retinal pigment epithelium; ; prefrontal cortex; ; ganglionic eminence;
	Top expressed in
	zygote; ; yolk sac; ; lip; ; superior frontal gyrus; ; spermatocyte; ; muscle of thigh; ; tail of embryo; ; ventricular zone; ; genital tubercle; ; neural tube;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; nucleotide binding; ligase activity; ATP binding; aminoacyl-tRNA editing activity; leucine-tRNA ligase activity;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	tRNA aminoacylation for protein translation; protein biosynthesis; leucyl-tRNA aminoacylation; mitochondrial translation; aminoacyl-tRNA metabolism involved in translational fidelity;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	23395
	102436
	ENSG00000011376
	ENSMUSG00000035202
	Q15031
	Q8VDC0
	NM_015340; NM_001368263
	NM_153168; NM_001348167; NM_001348168
	NP_056155; NP_001355192
	NP_694808; NP_001335096; NP_001335097
	Wikidata
View/Edit Human	View/Edit Mouse

Leucine–tRNA ligase, mitochondrial, also called leucyl-tRNA synthetase 2, mitochondrial, is an enzyme that in humans is encoded by the LARS2 gene. Like leucine–tRNA ligase, cytoplasmic (LARS1), this enzyme functions as a leucine–tRNA ligase, meaning it binds the amino acid leucine to the corresponding transfer RNA, tRNA^Leu, as part of protein synthesis.

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, tRNA^Leu.

Medical significance

Pathogenic (homozygous or compound heterozygous) mutations in LARS2 are associated with deafness and ovarian disgenesis, called Perrault syndrome-4 (PRLTS4). 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)

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000011376 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035202 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Sohm B, Sissler M, Park H, King MP, Florentz C (May 2004). "Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase". J Mol Biol. 339 (1): 17–29. doi:10.1016/j.jmb.2004.03.066. PMID 15123417.
1 2 3 "Entrez Gene: LARS2 leucyl-tRNA synthetase 2, mitochondrial".
↑ EC 6.1.1.4
↑ "https://www.omim.org/entry/615300". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27. {{cite web}}: External link in |title= (help)
↑ "HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Olsson P, Wennberg AL (1992). "[Midwife and research. Conference report]". Jordemodern. 104 (11): 408–9, 404. PMID 1684970.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)". DNA Res. 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.
Szeles A, Yang Y, Sandlund AM, et al. (1998). "Human/mouse microcell hybrid based elimination test reduces the putative tumor suppressor region at 3p21.3 to 1.6 cM". Genes Chromosomes Cancer. 20 (4): 329–36. doi:10.1002/(SICI)1098-2264(199712)20:4<329::AID-GCC3>3.0.CO;2-3. PMID 9408748. S2CID 39132097.
Kiss H, Kedra D, Yang Y, et al. (2000). "A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3". Hum. Genet. 105 (6): 552–9. doi:10.1007/s004399900188. PMID 10647888.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Yao YN, Wang L, Wu XF, Wang ED (2004). "The processing of human mitochondrial leucyl-tRNA synthetase in the insect cells". FEBS Lett. 534 (1–3): 139–42. doi:10.1016/S0014-5793(02)03833-4. PMID 12527375. S2CID 21901003.
Park H, Davidson E, King MP (2003). "The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation". Biochemistry. 42 (4): 958–64. doi:10.1021/bi026882r. PMID 12549915.
Yao YN, Wang L, Wu XF, Wang ED (2004). "Human mitochondrial leucyl-tRNA synthetase with high activity produced from Escherichia coli". Protein Expr. Purif. 30 (1): 112–6. doi:10.1016/S1046-5928(03)00097-4. PMID 12821328.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Munakata K, Iwamoto K, Bundo M, Kato T (2005). "Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia". Biol. Psychiatry. 57 (5): 525–32. doi:10.1016/j.biopsych.2004.11.041. PMID 15737668. S2CID 28499960.
't Hart LM, Hansen T, Rietveld I, et al. (2005). "Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene". Diabetes. 54 (6): 1892–5. doi:10.2337/diabetes.54.6.1892. hdl:1765/10387. PMID 15919814.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000011376 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035202 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15123417-5] Sohm B, Sissler M, Park H, King MP, Florentz C (May 2004). "Recognition of human mitochondrial tRNALeu(UUR) by its cognate leucyl-tRNA synthetase". J Mol Biol. 339 (1): 17–29. doi:10.1016/j.jmb.2004.03.066. PMID 15123417.

[entrez-6] 1 2 3 "Entrez Gene: LARS2 leucyl-tRNA synthetase 2, mitochondrial".

[7] EC 6.1.1.4

[8] "https://www.omim.org/entry/615300". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27. {{cite web}}: External link in |title= (help)

[9] "HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Leucine–tRNA ligase, mitochondrial

Function

Medical significance

References

Further reading