MGME1 (Mitochondrial Genome Maintenance Exonuclease 1) is a nuclear-encoded protein critical for mitochondrial DNA (mtDNA) replication and repair. It functions as a 5’-to-3’ exonuclease and flap endonuclease, resolving RNA/DNA hybrid primers and processing flap structures during mtDNA synthesis. MGME1 interacts with mitochondrial DNA polymerase γ and other replication machinery components, ensuring mtDNA integrity and accurate replication. Mutations in MGME1 are linked to mitochondrial disorders characterized by mtDNA deletions, depletion, or rearrangements, leading to multisystemic symptoms such as encephalopathy, myopathy, and respiratory failure.
Antibodies targeting MGME1 are essential tools for studying its expression, localization, and molecular interactions. They enable detection of MGME1 in tissues or cultured cells via techniques like Western blotting, immunofluorescence, and immunohistochemistry. Researchers use these antibodies to investigate MGME1’s role in mtDNA maintenance, its involvement in mitochondrial diseases, and potential therapeutic strategies. Commercial MGME1 antibodies are typically raised in rabbits or mice using immunogenic peptide sequences, with validation in knockdown/knockout models to confirm specificity. Such reagents have advanced understanding of mitochondrial genome dynamics and pathologies linked to mtDNA instability.