This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GTPBP3-20-RE | 20 (40 μL) | 200 μL |  |
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| GTPBP3-20-OR | 20 (40 μL) | 200 μL |  |
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| GTPBP3-20-GO | 20 (40 μL) | 200 μL |  |
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| GTPBP3-20-GR | 20 (40 μL) | 200 μL |  |
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| GTPBP3-20-AQ | 20 (40 μL) | 200 μL |  |
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This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Gene Symbol : GTPBP3
Gene Name : GTP binding protein 3, mitochondrial
Chromosome : CHR 19: 173,349,81-173,427,30
Locus : 19p13.11
Alt. Genes : CELA3A
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