POLG, DNA polymerase gamma, catalytic subunit

POLG, DNA polymerase gamma, catalytic subunit

• Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

• Gene Synonyms (DNA polymerase subunit gamma-1, PolG-alpha, mitochondrial DNA polymerase catalytic subunit, mitochondrial polymerase gamma catalytic subunit, polymerase (DNA directed), gamma, polymerase (DNA) gamma, catalytic subunit, truncated mitochondrial DNA polymerase gamma catalytic subunit, truncated mitochondrial polymerase gamma catalytic subunit, MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE,)
• NCBI Gene ID: 5428
• Species: Homo sapiens (Human)
• UNIPROT ID#>>E5KNU5
  UNIPROT ID#>>P54098
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

DNA polymerase gamma, catalytic subunit interacts with:

• 3'(2'), 5'-bisphosphate nucleotidase 1
  acyl-CoA synthetase medium chain family member 5
  DNA polymerase gamma 2, accessory subunit
  DNA polymerase gamma, catalytic subunit
  glutamyl-tRNA amidotransferase subunit C
  mitochondrial genome maintenance exonuclease 1
  mitochondrial ribosomal protein L4
  mitochondrial rRNA methyltransferase 1
  NADH:ubiquinone oxidoreductase core subunit S7
  oxidoreductase like domain containing 1
  septin 9
  single stranded DNA binding protein 1
  succinate dehydrogenase complex iron sulfur subunit B
  tetratricopeptide repeat domain 3
  tRNA methyltransferase 61B
  TSPY like 6
  ybeY metalloendoribonuclease

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.