This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CARS2-20-RE | 20 (40 μL) | 200 μL |  |
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| CARS2-20-OR | 20 (40 μL) | 200 μL |  |
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| CARS2-20-GO | 20 (40 μL) | 200 μL |  |
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| CARS2-20-GR | 20 (40 μL) | 200 μL |  |
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| CARS2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
Gene Symbol : CARS2
Gene Name : Cysteinyl-tRNA synthetase 2, mitochondrial
Chromosome : CHR 13: 110,713,526-110,641,409
Locus : 13q34
Alt. Genes : YAF2
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