RARS2( Human )
arginyl-tRNA synthetase 2, mitochondrial
Alias
ArgRS|DALRD2|PCH6|PRO1992|RARSL
This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].