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POLG2 encodes the processivity subunit of the mitochondrial DNA polymerase gamma. Zusätzlich bieten wir Ihnen Polymerase (DNA Directed), gamma 2, Accessory Subunit Antikörper (45) und und viele weitere Produktgruppen zu diesem Protein an.
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This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.
Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes.
Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function.
The authors describe the molecular characterization of a potential dominant POLG2 mutation (p.R369G) in a patient with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions.
Data show that rs17650301 in POLG2 is a good candidate marker for UBC invasiveness in Japanese males.
The biochemical analysis helps explain the pathogenesis of POLG2 mutations in mitochondrial disease.
human pol gammaB exhibits a catalytic subunit- and substrate DNA-dependent dimerization.
PolB gamma can bind double-stranded DNA and may play a role in DNA replication or repair
Study represents the first structure-function analysis of the thumb subdomain in pol gamma and examines the consequences of mitochondrial disease mutations in this region.
Both increased and decreased expression of POLGbeta altered nucleoid structure and precipitated a marked decrease in 7S DNA molecules, which form short displacement-loops on mitochondrial DNA.
Our data indicate that Polg2 function is critical to mammalian embryogenesis and mtDNA replication, and that a single copy of Polg2 is sufficient to sustain life.
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.
DNA polymerase subunit gamma-2, mitochondrial
, polymerase (DNA directed), gamma 2, accessory subunit
, DNA polymerase subunit gamma-2, mitochondrial-like
, DNA polymerase gamma accessory 55 kDa subunit
, mitochondrial DNA polymerase accessory subunit
, mitochondrial DNA polymerase subunit gamma-2
, mitochondrial DNA polymerase, accessory subunit
, mitochondrial polymerase gamma 2
, polymerase, gamma 2