POLG2 è un gene codificato dal simbolo POLG2. Comunemente indicato anche come: DNA polymerase subunit gamma-2, mitochondrial; DNA polymerase gamma accessory 55 kDa subunit; p55; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta; MTPOLB. POLG2 ha una massa di 54.91kDa, una lunghezza di amminoacidi di 485, ed è implicato in Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4.
Offriamo 6 anticorpi contro POLG2, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
Sommario di 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.
Coinvolgimento nella malattia
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.
Posizione cellulare
Mitochondrion.
