Aliases for RARS2 Gene
External Ids for RARS2 Gene
Previous HGNC Symbols for RARS2 Gene
Previous GeneCards Identifiers for RARS2 Gene
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]
GeneCards Summary for RARS2 Gene
RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with RARS2 include Pontocerebellar Hypoplasia, Type 6 and Pontocerebellar Hypoplasia Type 1. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA ligase activity. An important paralog of this gene is RARS.