XB-FEAT-988213

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gtpbp3

This is the community wiki page for the gene gtpbp3 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

08/15/2017 Human name has changed for Entrez Gene: 84705. From GTP binding protein 3 (mitochondrial) to GTP binding protein 3, mitochondrial

added synonyms :mss1; mtgp1; thdf1; gtpbg3; coxpd23


summary from NCBI

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]