RARS2 encodes the mitochondrial arginyl transfer RNA (tRNA) synthetase, an enzyme which belongs to the group of mitochondrial aminoacyl tRNA synthetases. These nuclear encoded mitochondrial proteins play a key role in mitochondrial protein translation by catalyzing the attachment of amino acids to their cognate tRNA molecules . Variants in RARS2 gene are associated with pontocerebellar hypoplasia type 6 (PCH6; MIM 611523), a rare mitochondrial encephalopathy with phenotype characterized by early onset seizures, profound developmental delay, and progressive pontocerebellar atrophy.(PMID: 27769281, PMID: 33209735)