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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.
Gene Name: | GTP binding protein 3 (mitochondrial) |
Synonyms: | GTPBP3, GTP-binding protein 3, GTPBG3, MSS1, MTGP1, THDF1 |
Target Sequences: | NM_032620 NP_116009.2 Q969Y2 |
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