Gene Symbol | POLG2 |
Entrez Gene ID | 11232 |
Full Name | DNA polymerase gamma 2, accessory subunit |
Synonyms | HP55,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3) |