Harmonizome 3.0

polymerase (DNA directed), gamma

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term polg in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for POLG from the Pathway Commons Protein-Protein Interactions dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the POLG gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From DisGeNET Gene-Disease Associations

genes associated with the disease Polg Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the POLG-Related Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.