Polymerase, DNA, Gamma

Alternative Names

  • POLG
  • Polymerase, DNA, Gamma-1
  • POLG1
  • POLG, Catalytic Subunit
  • POLG-Alpha
  • POLGA
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OMIM Number

174763

NCBI Gene ID

5428

Uniprot ID

P54098

Length

29,664 bases

No. of Exons

23

No. of isoforms

1

Protein Name

DNA polymerase subunit gamma-1

Molecular Mass

139562 Da

Amino Acid Count

1239

Genomic Location

chr15:89,305,198-89,334,861

Gene Map Locus
15q26.1

Description

POLG gene encodes the catalytic subunit of mitochondrial DNA polymerase, which is  involved in the replication and repair of mitochondrial DNA.

Mutations in POLG gene are associated with several diseases, commonly known as POLG-related disorders. These disorders are characterized by neuronal and hepatic degeneration. Dominant mutations typically cause adult-onset myopathies and encephalopathies, whereas recessive mutations result in more severe disorders, such as progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOA), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), and Alpers-Huttenlocher syndrome.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002693.3:c.2734+39_2734+40insAGGTUnited Arab EmiratesNC_000015.10:g.89321085_89321086insACCTBenignNG_008218.2:g.18710_18711insGTAG; NM_002693.3:c.2734+39_2734+40insAGGT; NP_002684.1:p.?2307433619386
NM_002693.3:c.3286C>T United Arab EmiratesNC_000015.10:g.89318737G>ALikely PathogenicLikely Pathogenic, PathogenicMitochondrial DNA Depletion Syndrome 4A (Alpers Type)NG_011736.1:g.79775G>A; NM_002693.3:c.3286C>T ; NP_002684.1:p.Arg1096Cys201732356206556

Other Reports

Tunisia

Baklouti-Gargouri et al. (2012) explored the possible association of the POLG gene polymorphism with male infertility in Tunisian men. They studied the polymorphic CAG repeat in the nuclear POLG gene in 339 male subjects (216 patients with infertility; 69 azoospermic, 115 oligoasthenoteratospermic and 32 normospermic; and 123 fertile individuals). The heterozygous and the homozygous mutant genotypes 10/10 and 10/10 were significantly more frequent among infertile patients than among fertile controls [11% vs 2% P=1.3×10(-3) and 5% vs 1% P=4.2×10(-7), respectively]. There was also a significant difference between the frequencies of 10/10 genotype in azoospermic (4%) and in oligoasthenoteratospermic (16%) infertile patients [P=2.6×10(-2)]. However, the homozygous mutant genotype 10/10 was seen at similar frequencies in azoospermic, normospermic and oligoasthenospermic men (4%, 3% and 5% respectively).

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