GENE NAME | LARS2 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000011376 |
ENTREZ ID | 23395 |
UNIPROT ACCESSION NUMBER | Q15031 |
GO MOLECULAR FUNCTION | leucine-tRNA ligase activity; aminoacyl-tRNA editing activity; ATP binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-392499; R-HSA-379726; R-HSA-72766; R-HSA-379724; hsa00970 |
3 combinations linked to LARS2 | OLI1049; OLI1039; OLI1055 |
4 variants linked to LARS2 | LARS2:c.1021T>G, p.Cys341Gly; LARS2:c.1717T>C, p.Phe573Leu; LARS2:c.2192A>T, p.Tyr731Phe; LARS2:c.457A>C, p.Asn153His |
1 disease linked to LARS2 | Primary ovarian failure |