Aliases for EARS2 Gene
External Ids for EARS2 Gene
Previous GeneCards Identifiers for EARS2 Gene
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]
GeneCards Summary for EARS2 Gene
EARS2 (Glutamyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with EARS2 include leukoencephalopathy - thalamus and brainstem anomalies - high lactate and combined oxidative phosphorylation deficiency 12. Among its related pathways are Metabolism and Gene Expression. GO annotations related to this gene include nucleotide binding and ligase activity, forming aminoacyl-tRNA and related compounds.
UniProtKB/Swiss-Prot for EARS2 Gene
Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).