Details for Gene LARS2

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 OLI1055; OLI1049; OLI1039
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

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