EARS2
Function
Non-discriminating glutamyl-tRNA synthetase that catalyzes aminoacylation of both mitochondrial tRNA(Glu) and tRNA(Gln) and participates in RNA aminoacylation for mitochondrial protein translation (PubMed:19805282). Attachs glutamate to tRNA(Glu) or tRNA(Gln) 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) or tRNA(Gln) (PubMed:19805282). In vitro, cytoplasmic tRNA(Gln) is slightly glutamylated, but with low activity (PubMed:19805282).
Involvement in disease
Combined oxidative phosphorylation deficiency 12
COXPD12
An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family. Glutamate--tRNA ligase type 1 subfamily.
Cellular localization
- Mitochondrion matrix
Alternative names
KIAA1970, EARS2, Glutamyl-tRNA synthetase, Mitochondrial glutamyl-tRNA synthetase, GluRS, mtGluRS