Literature associating EPRS and hypomyelinating leukodystrophy
Bifunctional glutamate/proline--tRNA ligase; Catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript- selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the multisynthetase complex and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; In the C-terminal section; belongs to the class-II aminoacyl-tRNA synthetase family.
Synonyms: EPRS, P07814, V9GYZ6, V9GZ76, GLNS ...