Arginyl-tRNA synthetase, cytoplasmic (ArgRS)

Arginyl-tRNA synthetase, cytoplasmic (ArgRS) is an essential class I aminoacyl-tRNA synthetase enzyme responsible for the ligation of arginine to its cognate tRNA during cytoplasmic protein synthesis[1][4][7]. Encoded by the RARS1 gene, this homodimeric enzyme catalyzes the attachment of arginine to tRNA^Arg, a fundamental step in translation[1][4]. ArgRS exists in at least two cytoplasmic isoforms and is part of the multisynthetase complex with other aminoacyl-tRNA synthetases and accessory proteins[7][8]. Pathogenic loss-of-function bi-allelic variants in RARS1 cause a spectrum of human neurodevelopmental disorders, most notably a hypomyelinating leukodystrophy with variable severity, presenting as global developmental delay, epilepsy, and myelin defects in the central nervous system[5][7][8]. No direct small-molecule drugs are currently known to target ArgRS for therapeutic purposes, and its essentiality for translation makes it a challenging drug target.

Other names

RARS1RARSArginine--tRNA ligase, cytoplasmicarginyl-tRNA synthetasearginine tRNA ligase 1, cytoplasmicDALRD1HLD9