DISEASES

Disease-gene associations mined from literature

Literature associating EARS2 and combined oxidative phosphorylation deficiency

EARS2 [ENSP00000395196]

Probable glutamate--tRNA ligase, mitochondrial; 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); Aminoacyl tRNA synthetases, Class I

Synonyms:  EARS2,  EARS2p,  hEARS2,  EARS2-001,  EARS2-003 ...

Linkouts:  STRING  Pharos  UniProt