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POLGpolymerase (DNA directed), gamma |
Known also as: PEO; MDP1; SCAE; POLG1; POLGA; SANDO; FLJ27114;
| NCBI Gene ID: | 5428 |
| NCBI Ensembl Id: | ENSG00000140521 |
| MIM Id: (from NCBI OMIM database) | 174763 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Lestienne P | Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro. | Biochem Biophys Res Commun Aug. 14, 1987 |
| Ropp PA, Copeland WC | Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. | Genomics Sept. 15, 1996 |
| Liu T, Lu B, Lee I, Ondrovicova G, Kutejova E, Suzuki CK | DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate. | J Biol Chem April 2, 2004 |
| Parlanti E, Pascucci B, Terrados G, Blanco L, Dogliotti E | Aphidicolin-resistant and -sensitive base excision repair in wild-type and DNA polymerase beta-defective mouse cells. | DNA Repair (Amst) July 2, 2004 |
| Azzalin CM, Lingner J | The human RNA surveillance factor UPF1 is required for S phase progression and genome stability. | Curr Biol Jan. 21, 2006 |
Last modification of this entry: Oct. 6, 2010.
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