POLG2 est un gène codé par le symbole POLG2. Communément appelé aussi: DNA polymerase subunit gamma-2, mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta; MTPOLB. POLG2 a une masse de 54.91kDa, une longueur d'acide aminé de 485, et est impliqué dans Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.
Nous proposons 6 des anticorps contre POLG2, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
Résumé Entrez
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.
Implication dans la maladie
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.
Localisation cellulaire
Mitochondrion.
