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This locus encodes a GTP-binding protein. Additionally we are shipping GTPBP3 Antibodies (30) and many more products for this protein.
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These observations suggest that the mouse Gtpbp3 is an evolutionarily conserved mitochondrial GTP-binding protein involved in the tRNA modification.
GTPBP3 defective expression is associated with an mitochondrial-tRNA hypomodification status.GTPBP3 plays a role in the regulation of UCP2 (show UCP2 Proteins) and MCP1 (show CCL2 Proteins) proteins through AMPK (show PRKAA1 Proteins) signaling.
Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU (show TRMU Proteins) genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
Most individuals with GTPBP3 mutations developed neurological symptoms and MRI (show C7ORF49 Proteins) involvement of thalamus, putamen, and brainstem resembling Leigh syndrome.
GTPBP3 localizes in the mitochondria and is a deafness-associated homolog of yeast MSS1.
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
Data show that the two most abundant GTPBP3 isoforms exhibit moderate affinity for guanine nucleotides like their bacterial homologue, MnmE, although they hydrolyze GTP (show AK3 Proteins) at a 100-fold lower rate.
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.
GTP binding protein 3 (mitochondrial)
, tRNA modification GTPase GTPBP3, mitochondrial
, tRNA modification GTPase GTPBP3, mitochondrial-like
, GTP-binding protein 3
, mitochondrial GTP-binding protein 1