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GTPBP3

Official Full Name
GTP binding protein 3, mitochondrial
Organism
Homo sapiens
GeneID
84705
Background
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]
Synonyms
MSS1; MTGP1; THDF1; GTPBG3; COXPD23;

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