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POLG

polymerase (DNA directed), gamma

On chromosome: 15q25
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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