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 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