tRNA modification GTPase GTPBP3, mitochondrial (GTPBP3)

tRNA modification GTPase GTPBP3, mitochondrial, is an evolutionarily conserved enzyme encoded by the *GTPBP3* gene, localized to mitochondria, and critical for the modification of mitochondrial tRNA at the wobble position (position 34) through catalysis of 5-taurinomethyluridine (τm⁵U) formation[1][2][3][4][6][7]. This tRNA modification is essential for accurate codon-anticodon pairing, efficient mitochondrial translation, and ultimately mitochondrial respiration and energy generation[1][4][7]. Loss or mutation of GTPBP3 impairs τm⁵U modification, leading to mitochondrial dysfunction, including reduced ATP synthesis, defective membrane potential, increased oxidative stress, and clinical syndromes such as oxidative phosphorylation disorder, deafness, cardiomyopathy, and lactic acidosis[4][5][7]. GTPBP3 functions as an active GTPase, and its pathogenic mutations disrupt mitochondrial localization, protein stability, or enzymatic activity[2][3][6]. There are currently no specific interacting drugs, nor is it established as a direct therapeutic target for pharmaceuticals, but its functional status may serve as a biomarker in mitochondrial disorders.

Other names

GTP binding protein 3, mitochondrialMitochondrial GTP-binding protein 15-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrialMTGP1MSS1THDF1GTPBG3FLJ14700COXPD23

Drugs could hypothetically modulate mitochondrial translation or tRNA modification by targeting GTPBP3’s GTPase function (no direct drugs currently reported)