NCBI Description
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]
Uniprot Description
GTPBP3: GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs (Probable). Belongs to the Era/MnmE GTP-binding protein family. MnmE subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 19p13.11
Cellular Component: mitochondrion
Molecular Function: protein binding
Disease: Combined Oxidative Phosphorylation Deficiency 23
Product Notes
The GTPBP3 gtpbp3 (Catalog #
AAA9224370) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase.
It is sometimes possible for the material contained within the vial of
"GTPBP3, Blocking Peptide" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
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