Search results for abx031073

GTP Binding Protein 3 (Mitochondrial) (GTPBP3) Antibody, Abbexa, abx031073

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.