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 Deafness, Autosomal Recessive 26. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ERAL1.
UniProtKB/Swiss-Prot Summary for GTPBP3 Gene
GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.