Ontology highlight
ABSTRACT:
SUBMITTER: Stumpf JD
PROVIDER: S-EPMC3046768 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Stumpf Jeffrey D JD Copeland William C WC
Cellular and molecular life sciences : CMLS 20101008 2
DNA polymerase γ (pol γ), encoded by POLG, is responsible for replicating human mitochondrial DNA. About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. Because many of the mutations are described in single citations with no genotypic family history, it is important to ascertain which mutations cause or contribute to mitochondrial disease. The vast majority ...[more]