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Article

Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

The Journal of biological chemistry - 10 Mar 2017

DeBalsi Karen L, Longley Matthew J, Hoff Kirsten E, Copeland William C

Abstract excerpt

Human mitochondrial DNA (mtDNA) polymerase γ (Pol γ) is the only polymerase known to replicate the mitochondrial genome. The Pol γ holoenzyme consists of the p140 catalytic subunit (POLG) and the p55 homodimeric accessory subunit (POLG2), which enhances binding of Pol γ to DNA and promotes processivity of the holoenzyme. Mutations within POLG impede maintenance of mtDNA and cause mitochondrial diseases. Two...

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Identifiers

PMID: 28154168
DOI: 10.1074/jbc.M116.773341
PMCID: PMC5354484

Genes

POLG
POLG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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