Disease-gene associations mined from literature

Literature associating AARS and early infantile epileptic encephalopathy 29

AARS [ENSP00000261772]

Alanine--tRNA ligase, cytoplasmic; 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:  AARS,  AARS-001,  AARS-002,  AARS-003,  AARS-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM