Anti-POLG2 Antibody Picoband® Fluoro594 Conjugated

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.

POLG2; MTPOLB; DNA polymerase subunit gamma-2, mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta

1. Carrodeguas, J. A., Bogenhagen, D. F. Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. Nucleic Acids Res. 28: 1237-1244, 2000. 2. Carrodeguas, J. A., Theis, K., Bogenhagen, D. F., Kisker, C. Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol-gamma-B, functions as a homodimer. Molec. Cell 7: 43-54, 2001. 3. Dosekova, P., Dubiel, A., Karlowicz, A., Zietkiewicz, S., Rydzanicz, M., Habalova, V., Pienkowski, V. M., Skirkova, M., Han, V., Mosejova, A., Gdovinova, Z., Kaliszewska, M., Tonska, K., Szymanski, M. R., Skorvanek, M., Ploski, R. Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion. Europ. J. Med. Genet. 63: 103821, 2020.