Disease-gene associations mined from literature

Literature associating KARS and early infantile epileptic encephalopathy 29

KARS [ENSP00000325448]

Lysyl-tRNA synthetase; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity; Belongs to the class-II aminoacyl-tRNA synthetase family.

Synonyms:  KARS,  H3BMR9,  H3BPV7,  H3BQK5,  H3BRC9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM