MGP Database

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MGP004488

UniProt Annotations

Entry Information
Gene Namepolymerase (DNA directed), gamma 2, accessory subunit
Protein EntryDPOG2_HUMAN
UniProt IDQ9UHN1
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityDeoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
DiseaseProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:16685652}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
InteractionP54098:POLG; NbExp=9; IntAct=EBI-852642, EBI-852624;
Subcellular LocationMitochondrion.
SubunitHeterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.
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