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RARS2

Official Full Name
arginyl-tRNA synthetase 2, mitochondrial
Organism
Homo sapiens
GeneID
57038
Background
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]
Synonyms
PCH6; ArgRS; RARSL; DALRD2; PRO1992;

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