GTPBP3 Antibody

1. Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. PMID: 29348686
2. GTPBP3 defective expression is associated with an mitochondrial-tRNA hypomodification status.GTPBP3 plays a role in the regulation of UCP2 and MCP1 proteins through AMPK signaling. PMID: 26642043
3. Most individuals with GTPBP3 mutations developed neurological symptoms and MRI involvement of thalamus, putamen, and brainstem resembling Leigh syndrome. PMID: 25434004
4. GTPBP3 localizes in the mitochondria and is a deafness-associated homolog of yeast MSS1. PMID: 12370316
5. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. PMID: 15542390
6. Data show that the two most abundant GTPBP3 isoforms exhibit moderate affinity for guanine nucleotides like their bacterial homologue, MnmE, although they hydrolyze GTP at a 100-fold lower rate. PMID: 18852288

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HGNC: 14880

OMIM: 580000

KEGG: hsa:84705

UniGene: Hs.334885