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EARS2

Official Full Name
glutamyl-tRNA synthetase 2, mitochondrial
Organism
Homo sapiens
GeneID
124454
Background
This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Synonyms
MSE1; gluRS; COXPD12; mtGlnRS; mtGluRS;

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