• Thumbnail for POLG2
    gamma-2, mitochondrial is a protein that in humans is encoded by the POLG2 gene. The POLG2 gene encodes a 55 kDa accessory subunit protein that imparts high...
    9 KB (1,099 words) - 11:30, 14 August 2023
  • Q9NRF9 12476 POLE4 HGNC:18755 Q9NR33 12477 POLG HGNC:9179 P54098 12478 POLG2 HGNC:9180 Q9UHN1 12479 POLGARF HGNC:56246 A0A3B3IS91 12480 POLH HGNC:9181...
    282 KB (17 words) - 23:17, 27 April 2024
  • Thumbnail for Mitochondrial myopathy
    deletions, autosomal recessive/dominant) POLG, SLC25A4, RNASEH1, TWNK, TK2, POLG2, DGUOK, TOP3A, RRM2B AR/AD PS157640 Mitochondrial DNA depletion syndrome...
    40 KB (3,236 words) - 06:39, 15 April 2024
  • Thumbnail for Mitochondrial DNA
    encoded by the POLG gene and two 55 kDa accessory subunits encoded by the POLG2 gene. The replisome machinery is formed by DNA polymerase, TWINKLE and mitochondrial...
    94 KB (9,952 words) - 18:14, 21 March 2024
  • recessive forms of PEO can be caused by genetic mutations in the ANT1, POLG, POLG2 and PEO1 genes. It is important to differentiate CPEO from other pathologies...
    15 KB (1,759 words) - 21:43, 12 August 2023
  • Thumbnail for POLG
    subunit, POLG, and a dimeric accessory subunit of 55 kDa encoded by the POLG2 gene. The catalytic subunit contains three enzymatic activities, a DNA polymerase...
    15 KB (1,864 words) - 02:22, 10 March 2024
  • ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal...
    234 KB (18,877 words) - 12:36, 2 April 2024