GTPBP3, Official Symbol GTPBP3provided by HGNC Official Full Name GTP binding protein 3, mitochondrialprovided by HGNC Primary source HGNC:HGNC:14880 See related Ensembl:ENSG00000130299 MIM:608536; AllianceGenome:HGNC:14880 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSS1; MTGP1; THDF1; GTPBG3; COXPD23 Summary 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] Expression Ubiquitous expression in spleen (RPKM 3.4), skin (RPKM 3.3) and 25 other tissues See more Orthologs mouse all