DISEASES

Disease-gene associations mined from literature

Literature associating AARS2 and combined oxidative phosphorylation deficiency

AARS2 [ENSP00000244571]

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

Synonyms:  AARS2,  AARS2p,  hAARS2,  Q5JTZ9,  AARSL ...

Linkouts:  STRING  Pharos  UniProt  OMIM