Aliases for GTPBP3 Gene
External Ids for GTPBP3 Gene
Previous GeneCards Identifiers for GTPBP3 Gene
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]
GeneCards Summary for GTPBP3 Gene
GTPBP3 (GTP Binding Protein 3, Mitochondrial) is a Protein Coding gene. Diseases associated with GTPBP3 include Combined Oxidative Phosphorylation Deficiency 23 and Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes. Among its related pathways are tRNA processing and Gene Expression. GO annotations related to this gene include GTP binding and GTPase activity.
UniProtKB/Swiss-Prot for GTPBP3 Gene
GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.