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Article

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

PloS one - 1 Jan 2018

Hoff Kirsten E, DeBalsi Karen L, Sanchez-Quintero Maria J, Longley Matthew J, Hirano Michio, Naini Ali B, Copeland William C

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondrial single-stranded binding protein (mtSSB). The Pol γ holoenzyme is a heterotrimer consisting of the p140 catalytic subunit and a p55 homodimeric accessory subunit...

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Source

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Identifiers

PMID: 30157269
DOI: 10.1371/journal.pone.0203198
PMCID: PMC6114919

Genes

POLG2
POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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