Gene Symbol | GTPBP3 |
Entrez Gene ID | 84705 |
Full Name | GTP binding protein 3, mitochondrial |
Synonyms | COXPD23,GTPBG3,MSS1,MTGP1,THDF1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 23, 616198 (3) |