Aliases for POLG2 Gene
External Ids for POLG2 Gene
Previous GeneCards Identifiers for POLG2 Gene
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
GeneCards Summary for POLG2 Gene
POLG2 (Polymerase (DNA Directed), Gamma 2, Accessory Subunit) is a Protein Coding gene. Diseases associated with POLG2 include progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 and progressive external ophthalmoplegia, autosomal dominant. Among its related pathways are Metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include identical protein binding and DNA-directed DNA polymerase activity.
UniProtKB/Swiss-Prot for POLG2 Gene
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA