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.
GTPBP3; GTP binding protein 3 (mitochondrial); tRNA modification GTPase GTPBP3, mitochondrial; FLJ14700; GTPBG3; MSS1; MTGP1; THDF1; GTP binding protein 3; GTP binding protein 3 mitochondrial; GTPBG 3; GTPBP 3; Mitochondrial GTP binding protein 1; Mitochondrial GTP binding protein; MSS 1; MTGP 1; THDF 1; tRNA modification GTPase GTPBP3; tRNA modification GTPase GTPBP3 mitochondrial; mitochondrial GTP-binding protein 1; FLJ17836; zgc:112394; GTP-binding protein 3; mitochondrial GTP binding protein 3