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Gene

POLG

DNA polymerase gamma, catalytic subunit

Summary

Cytogenetic location
15q26.1
Coordinates
Chromosome 15: 89,316,320–89,334,824 (GRCh38)
Exons
23 exons across 18.5 kb
Protein
1,239 amino acids
Also known as
POLG1, POLGA
MANE Select transcript
ENST00000268124.11NM_002693.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Ataxia Neuropathy Spectrum

      A POLG- or TWNK-related disorder causing problems with balance and coordination, sensory nerve damage, eye movement problems and sometimes seizures.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides seizure management, including avoiding valproate.

    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

      Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

How POLG is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 15, with a bracket where POLG sits. POLG and 16 genes near it on chromosome 15, from 88,825,572 to 89,825,571.Chromosome 1515q26.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.389 Mb89.2 Mb89.4 Mb89.6 Mb89.8 MbACAN: 88,803,427–88,875,353, forward strandACANHAPLN3: 88,877,289–88,895,597, reverse strandHAPLN3MFGE8: 88,898,683–88,913,579, reverse strandMFGE8ABHD2: 89,087,459–89,202,355, forward strandABHD2RLBP1: 89,209,869–89,222,577, reverse strandRLBP1FANCI: 89,243,854–89,318,091, forward strandFANCIPOLG: 89,316,320–89,334,824, reverse strandPOLGPOLGARF: 89,330,208–89,333,809, reverse strandPOLGARFRHCG: 89,451,995–89,496,815, reverse strandRHCGTICRR: 89,575,455–89,631,056, forward strandTICRRKIF7: 89,608,789–89,663,098, reverse strandKIF7PLIN1: 89,664,365–89,679,466, reverse strandPLIN1PEX11A: 89,677,764–89,690,786, reverse strandPEX11AWDR93: 89,690,810–89,743,639, forward strandWDR93MESP1: 89,749,875–89,751,301, reverse strandMESP1MESP2: 89,760,591–89,778,754, forward strandMESP2ANPEP: 89,784,875–89,815,401, reverse strandANPEPDiagram of POLG: 23 exons on the reverse strand of chromosome 15Exon 22: 27 known disease-causing sitesExon 21: 28 known disease-causing sitesExon 20: 17 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 18: 31 known disease-causing sitesExon 17: 16 known disease-causing sitesExon 16: 16 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 12 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 28 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 17 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 19 known disease-causing sitesExon 2: 37 known disease-causing sitesExon 23: 89,316,320–89,316,827, 508 basesExon 22: 89,317,376–89,317,536, 161 basesExon 21: 89,318,541–89,318,749, 209 basesExon 20: 89,318,931–89,319,099, 169 basesExon 19: 89,319,228–89,319,350, 123 basesExon 18: 89,320,766–89,321,012, 247 basesExon 17: 89,321,125–89,321,260, 136 basesExon 16: 89,321,736–89,321,853, 118 basesExon 15: 89,321,962–89,322,015, 54 basesExon 14: 89,322,742–89,322,902, 161 basesExon 13: 89,323,404–89,323,511, 108 basesExon 12: 89,323,815–89,323,901, 87 basesExon 11: 89,324,107–89,324,227, 121 basesExon 10: 89,325,450–89,325,686, 237 basesExon 9: 89,326,612–89,326,738, 127 basesExon 8: 89,326,912–89,327,063, 152 basesExon 7: 89,327,167–89,327,349, 183 basesExon 6: 89,328,456–89,328,535, 80 basesExon 5: 89,328,685–89,328,831, 147 basesExon 4: 89,328,943–89,329,110, 168 basesExon 3: 89,330,081–89,330,276, 196 basesExon 2: 89,333,096–89,333,913, 818 basesExon 1: 89,334,673–89,334,824, 152 bases2322201816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.5 kb of the gene's 18.5 kb; 3,720 of those bases code for the protein.

How a genome test reads POLG

356

positions in POLG where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 18.5 kb of POLG, introns included, not only the 4.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POLG gene: DNA polymerase gamma, catalytic subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/polg

Vancouver

Dante Labs. POLG gene: DNA polymerase gamma, catalytic subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/polg

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