Arginyl-tRNA synthetase 2, mitochondrial (RARS2)

Arginyl-tRNA synthetase 2, mitochondrial (RARS2) is an enzyme encoded by the nuclear RARS2 gene, primarily localized to mitochondria. It catalyzes the ATP-dependent attachment of the amino acid arginine to its corresponding tRNA(Arg), a crucial step for translating protein-coding genes in mitochondrial DNA. Deficiency or functional disruption of this enzyme, usually due to genetic mutations, causes a distinct group of early-onset neurodegenerative disorders, notably pontocerebellar hypoplasia type 6 (PCH6), characterized by profound developmental delay, movement abnormalities, seizures, lactic acidosis, and cerebellar/brainstem atrophy[1][3][4][5][8]. There are no known direct drugs or small molecules that modulate RARS2 function in clinical use or trials. RARS2 belongs to the aminoacyl-tRNA synthetase family and is essential for mitochondrial protein biosynthesis and cellular energy metabolism.

Other names

Probable arginine–tRNA ligase, mitochondrialRARSLArgRSMGC14993MGC23778PRO1992dJ382I10.6DALRD2arginyl-tRNA synthetase-likearginine-tRNA ligaseSYRM_HUMAN