Arginyl tRNA Synthetase 2, Mitochondrial (RARS2)

Edvardson et al. (2007) identified the RARS2 gene within a region on chromosome 6 linked to a form of pontocerebellar hypoplasia (PCH6).

The RARS2 gene encodes a 578-amino acid protein.Edvardson et al. (2007) determined that the RARS2 gene comprises 20 exons. The splice site of exon 2 deviates markedly from the consensus.The mutation was found at the exon 2/intron 2 junction in none of 105 anonymous individuals of Sephardic Jewish origin. The mutation was predicted to result in skipping of exon 2, frameshift, and abolished enzymatic activity. Before the report of Edvardson et al. (2007), deficiency of the mitochondrial tRNA(arg) synthetase had been identified only in yeast .