LongevityMap Gene
Gene details
- HGNC symbol
- POLG
- Aliases
- PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B
- Common name
- DNA polymerase gamma, catalytic subunit
- Description
- 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]
- Cytogenetic Location
- 15q26.1
- UCSC Genome Browser
- View 15q26.1 on the UCSC genome browser
- OMIM
- 174763
- Ensembl
- ENSG00000140521
- UniProt/Swiss-Prot
- DPOG1_HUMAN
- Entrez Gene
- 5428
- UniGene
- 706868
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- polg-1
- Danio rerio
- polg
- Drosophila melanogaster
- tam
- Mus musculus
- Polg
- Rattus norvegicus
- Polg
- Saccharomyces cerevisiae
- MIP1
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Polg
- GenAge human genes
- This gene is present as POLG
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs2074885
- Reference