| Gene Symbol | RARS2 |
| Entrez Gene ID | 57038 |
| Full Name | arginyl-tRNA synthetase 2, mitochondrial |
| Synonyms | ArgRS,DALRD2,PCH6,PRO1992,RARSL |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Pontocerebellar hypoplasia, type 6, 611523 (3) |








































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