GTPBP3( Human )
GTP binding protein 3 (mitochondrial)
Alias
COXPD23|GTPBG3|MSS1|MTGP1|THDF1
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].