DISEASES

Disease-gene associations mined from literature

Literature associating TARS2 and combined oxidative phosphorylation deficiency

TARS2 [ENSP00000358060]

threonyl-tRNA synthetase 2, mitochondrial (putative); Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain; Belongs to the class-II aminoacyl-tRNA synthetase family.

Synonyms:  TARS2,  MIR6878,  TARS2p,  hTARS2,  B4DQF3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM