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) |