POLG2 Antibody

1. 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. PMID: 27592148
2. Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes. PMID: 26403317
3. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965
4. 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. PMID: 22155748
5. Data show that rs17650301 in POLG2 is a good candidate marker for UBC invasiveness in Japanese males. PMID: 21734712
6. The biochemical analysis helps explain the pathogenesis of POLG2 mutations in mitochondrial disease. PMID: 21555342
7. human pol gammaB exhibits a catalytic subunit- and substrate DNA-dependent dimerization. PMID: 19858216
8. PolB gamma can bind double-stranded DNA and may play a role in DNA replication or repair PMID: 12379656
9. 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. PMID: 19478085
10. 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. PMID: 19625489

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HGNC: 9180

OMIM: 604983

KEGG: hsa:11232

STRING: 9606.ENSP00000442563

UniGene: Hs.437009