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POLG2

POLG2

Protein-coding gene in the species Homo sapiens

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

POLG2

Mitochondrial DNA

DNA located in mitochondria

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

Mitochondrial DNA

Mitochondrial_DNA

POLG

Protein-coding gene in the species Homo sapiens

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

POLG

Mitochondrial myopathy

Muscle disorders caused by mitochondrial dysfunction

deletions, autosomal recessive/dominant) POLG, SLC25A4, RNASEH1, TWNK, TK2, POLG2, DGUOK, TOP3A, RRM2B AR/AD PS157640 Mitochondrial DNA depletion syndrome

Mitochondrial myopathy

Mitochondrial_myopathy

Chronic progressive external ophthalmoplegia

Medical condition

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

Chronic progressive external ophthalmoplegia

Chronic_progressive_external_ophthalmoplegia

List of human protein-coding genes 6

Q9NRF9 12478 POLE4 HGNC:18755; Q9NR33 12479 POLG HGNC:9179; P54098 12480 POLG2 HGNC:9180; Q9UHN1 12481 POLGARF HGNC:56246; A0A3B3IS91 12482 POLH HGNC:9181;

List of human protein-coding genes 6

List_of_human_protein-coding_genes_6

List of OMIM disorder codes

ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; 610131; POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal

List of OMIM disorder codes

List_of_OMIM_disorder_codes