This gene encodes a 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 glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EARS2-20-RE | 20 (40 μL) | 200 μL |  |
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| EARS2-20-OR | 20 (40 μL) | 200 μL |  |
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| EARS2-20-GO | 20 (40 μL) | 200 μL |  |
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| EARS2-20-GR | 20 (40 μL) | 200 μL |  |
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| EARS2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a 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 glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Gene Symbol : EARS2
Gene Name : Glutamyl-tRNA synthetase 2, mitochondrial
Chromosome : CHR 16: 235,573,74-235,220,12
Locus : 16p12.2
Alt. Genes : HIPK3
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