POLG2 ist ein Gen, das durch das Symbol POLG2 kodiert wird. Im Allgemeinen auch bezeichnet als: DNA polymerase subunit gamma-2, mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta; MTPOLB. POLG2 hat eine Masse von 54.91kDa, eine Aminosäurelänge von 485, und ist an Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 beteiligt.
Wir bieten 6 antikörper gegen POLG2, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4: 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.
