Name
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arginyl-tRNA synthetase 2, mitochondrial | Cytological Location | 6q15 |
Brief Description | arginyl-tRNA synthetase 2, mitochondrial |
Description | 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] |