DNA polymerase subunit gamma-2, mitochondrial

Definition:

Mitochondrial polymerase processivity subunit. It regulates the polymerase and exonuclease activities promoting processive DNA synthesis. Binds to ss-DNA.

References:

[1]. Petra Dosekova, et al. 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. Eur J Med Genet. 2020 Apr;63(4):103821. [Content Brief]

[2]. Kirsten E Hoff, et al. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. PLoS One. 2018 Aug 29;13(8):e0203198. [Content Brief]

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