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 12475 POLE4 HGNC:18755 Q9NR33 12476 POLG HGNC:9179 P54098 12477 POLG2 HGNC:9180 Q9UHN1 12478 POLGARF HGNC:56246 A0A3B3IS91 12479 POLH HGNC:9181...
282 KB (17 words) - 18:42, 6 October 2024
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) - 17:28, 19 September 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
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...
95 KB (10,003 words) - 18:29, 29 September 2024
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) - 21:00, 1 May 2024
ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal...
234 KB (18,877 words) - 15:43, 9 May 2024